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Jean Bousquet - One of the best experts on this subject based on the ideXlab platform.
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glacial vicariance in the pacific northwest evidence from a lodgepole pine mitochondrial DNA Minisatellite for multiple genetically distinct and widely separated refugia
Molecular Ecology, 2008Co-Authors: Julie Godbout, Aron J Fazekas, Craig H Newton, Jean BousquetAbstract:: The Canadian side of the Pacific Northwest was almost entirely covered by ice during the last glacial maximum, which has induced vicariance and genetic population structure for several plant and animal taxa. Lodgepole pine (Pinus contorta Dougl. ex. Loud.) has a wide latitudinal and longitudinal distribution in the Pacific Northwest. Our main objective was to identify relictual signatures of glacial vicariance in the population structure of the species and search for evidence of distinct glacial refugia in the Pacific Northwest. A maternally inherited mitochondrial DNA Minisatellite-like marker was used to decipher haplotype diversity in 91 populations of lodgepole pine located across the natural range. Overall population differentiation was sizeable (G(ST) = 0.365 and R(ST) = 0.568). Four relatively homogeneous groups of populations, possibly representative of as many genetically distinct glacial populations, were identified for the two main subspecies, ssp. latifolia and ssp. contorta. For ssp. contorta, one glacial lineage is suggested to have been located at high latitudes and possibly off the coast of mainland British Columbia (BC), while the other is considered to have been located south of the ice sheet along the Pacific coast. For ssp. latifolia, two genetically distinct glacial populations probably occurred south of the ice sheet: in the area bounded by the Cascades and Rocky Mountains ranges, and on the eastern side of the Rockies. A possible fifth refugium located in the Yukon may have also been present for ssp. latifolia. Zones of contact between these ancestral lineages were also apparent in interior and northern BC. These results indicate the role of the Queen Charlotte Islands and the Alexander Archipelago as a refugial zone for some Pacific Northwest species and the vicariant role played by the Cascades and the American Rocky Mountains during glaciation.
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a mitochondrial DNA Minisatellite reveals the postglacial history of jack pine pinus banksiana a broad range north american conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Juan P Jaramillocorrea, Jean Beaulieu, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
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A mitochondrial DNA Minisatellite reveals the postglacial history of jack pine (Pinus banksiana), a broad‐range North American conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Jean Beaulieu, Juan P. Jaramillo-correa, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
Julie Godbout - One of the best experts on this subject based on the ideXlab platform.
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glacial vicariance in the pacific northwest evidence from a lodgepole pine mitochondrial DNA Minisatellite for multiple genetically distinct and widely separated refugia
Molecular Ecology, 2008Co-Authors: Julie Godbout, Aron J Fazekas, Craig H Newton, Jean BousquetAbstract:: The Canadian side of the Pacific Northwest was almost entirely covered by ice during the last glacial maximum, which has induced vicariance and genetic population structure for several plant and animal taxa. Lodgepole pine (Pinus contorta Dougl. ex. Loud.) has a wide latitudinal and longitudinal distribution in the Pacific Northwest. Our main objective was to identify relictual signatures of glacial vicariance in the population structure of the species and search for evidence of distinct glacial refugia in the Pacific Northwest. A maternally inherited mitochondrial DNA Minisatellite-like marker was used to decipher haplotype diversity in 91 populations of lodgepole pine located across the natural range. Overall population differentiation was sizeable (G(ST) = 0.365 and R(ST) = 0.568). Four relatively homogeneous groups of populations, possibly representative of as many genetically distinct glacial populations, were identified for the two main subspecies, ssp. latifolia and ssp. contorta. For ssp. contorta, one glacial lineage is suggested to have been located at high latitudes and possibly off the coast of mainland British Columbia (BC), while the other is considered to have been located south of the ice sheet along the Pacific coast. For ssp. latifolia, two genetically distinct glacial populations probably occurred south of the ice sheet: in the area bounded by the Cascades and Rocky Mountains ranges, and on the eastern side of the Rockies. A possible fifth refugium located in the Yukon may have also been present for ssp. latifolia. Zones of contact between these ancestral lineages were also apparent in interior and northern BC. These results indicate the role of the Queen Charlotte Islands and the Alexander Archipelago as a refugial zone for some Pacific Northwest species and the vicariant role played by the Cascades and the American Rocky Mountains during glaciation.
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a mitochondrial DNA Minisatellite reveals the postglacial history of jack pine pinus banksiana a broad range north american conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Juan P Jaramillocorrea, Jean Beaulieu, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
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A mitochondrial DNA Minisatellite reveals the postglacial history of jack pine (Pinus banksiana), a broad‐range North American conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Jean Beaulieu, Juan P. Jaramillo-correa, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
L Henke - One of the best experts on this subject based on the ideXlab platform.
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Population genetic and family data for the human Minisatellite locus D16S309 (MS205) in Germans
International Journal of Legal Medicine, 1996Co-Authors: L Henke, S. Cleef, M. Tahar, I. Kops, J. HenkeAbstract:The distribution of restriction fragments at the DNA Minisatellite locus D16S309 was estimated by investigating blood samples from 2617 unrelated West German Caucasians and 1269 offspring. Furthermore segregation of fragments was studied in a large family and in trios. Altogether 2296 meioses were studied, revealing 7 paternal and 3 maternal mutations. Inspection of “phenotypes” did not reveal any remarkable deviation from Hardy-Weinberg equilibrium.
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DNA-Minisatellite mutations: Recent investigations concerning distribution and impact on parentage testing
International Journal of Legal Medicine, 1993Co-Authors: J Henkel, Rolf Fimmers, Max P Baur, L HenkeAbstract:815-2004 Meiosen wurden in den HinfI-Polymorphismen der DNA-Loci D1S7, D2S44, D7S22 und D12S11 untersucht, um Daten über Mutationsfrequenzen zu gewinnen. Getrennt nach paternalen und maternalen Meiosen wurden die in Tabelle 1 dargestellten Mutationsraten beobachtet. Am DNA-Locus D7S21 (Sonde MS31) wurde ein signifikanter Unterschied zwischen paterneller und materneller Mutationsrate festgestellt (1,5% im Vergleich zu 0,2%). Die Arbeit beschreibt weiterhin, wie biostatistisch mit (paternellen) Mutationen im Vaterschaftsgutachten umgegangen werden muß. Die Bedeutung von Mutationen illustrieren 2 Falldarstellungen: Der 1. Fall beschreibt einen “Eltern-Kind-Ausschluß” mit Sonde MS1. Der 2. Fall berichtet von 2 paternellen “Ausschlußkonstellationen” mit den Sonden MS31 und G3. At least 815 meioses were studied in the Hin fI polymorphisms of DNA Minisatellite loci D1S7, D2S44, D7S21, D7S22, and D12S11 in order to collect data on respective mutation rates. At locus D7S21 (probe MS31) a striking difference between the paternal and maternal mutation rate was observed (1.5% versus 0.2%). This study also describes, how to deal biostatistically with paternal mutations in parentage testing. Possible implications of mutations are illustrated by the description of 2 cases. Case 1 reports an “exclusion” of mother and father with probe MS1. Case 2 describes 2 paternal “exclusions” with probes MS31 and G3. The statistical likelihood for a paternal “exclusion” with 2 of the 5 probes is 0.13%. By omitting probe MS1, this frequency can be reduced to 0.02%. Nevertheless, the second case clearly shows, that informative blood group markers cannot be replaced by DNA polymorphisms.
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DNA Minisatellite mutations recent investigations concerning distribution and impact on parentage testing
International Journal of Legal Medicine, 1993Co-Authors: J Henkel, Rolf Fimmers, Max P Baur, L HenkeAbstract:At least 815 meioses were studied in theHinfI polymorphisms of DNA Minisatellite loci D1S7, D2S44, D7S21, D7S22, and D12S11 in order to collect data on respective mutation rates. At locus D7S21 (probe MS31) a striking difference between the paternal and maternal mutation rate was observed (1.5% versus 0.2%). This study also describes, how to deal biostatistically with paternal mutations in parentage testing. Possible implications of mutations are illustrated by the description of 2 cases. Case 1 reports an “exclusion” of mother and father with probe MS1. Case 2 describes 2 paternal “exclusions” with probes MS31 and G3. The statistical likelihood for a paternal “exclusion” with 2 of the 5 probes is 0.13%. By omitting probe MS1, this frequency can be reduced to 0.02%. Nevertheless, the second case clearly shows, that informative blood group markers cannot be replaced by DNA polymorphisms.
Jean Beaulieu - One of the best experts on this subject based on the ideXlab platform.
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a mitochondrial DNA Minisatellite reveals the postglacial history of jack pine pinus banksiana a broad range north american conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Juan P Jaramillocorrea, Jean Beaulieu, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
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A mitochondrial DNA Minisatellite reveals the postglacial history of jack pine (Pinus banksiana), a broad‐range North American conifer
Molecular Ecology, 2005Co-Authors: Julie Godbout, Jean Beaulieu, Juan P. Jaramillo-correa, Jean BousquetAbstract:Jack pine (Pinus banksiana Lamb.) is a broadly distributed North American conifer and its current range was covered by the Laurentian ice sheet during the last glacial maximum. To infer about the history and postglacial colonization of this boreal species, range-wide genetic variation was assessed using a new and highly variable Minisatellite-like marker of the mitochondrial genome. Among the 543 trees analysed, 14 distinct haplotypes were detected, which corresponded to different repeat numbers of the 32-nucleotide Minisatellite-like motif. Several haplotypes were rare with limited distribution, suggesting recent mutation events during the Holocene. At the population level, an average of 2.6 haplotypes and a mean haplotype diversity (H) of 0.328 were estimated. Population subdivision of genetic diversity was quite high with GST and RST values of 0.569 and 0.472, respectively. Spatial analyses identified three relatively homogeneous groups of populations presumably representative of genetically distinct glacial populations, one west and one east of the Appalachian Mountains in the United States and a third one presumably on the unglaciated northeastern coastal area in Canada. These results indicate the significant role of the northern part of the US Appalachian Mountains as a factor of vicariance during the ice age. A fourth distinct group of populations was observed in central Quebec where the continental glacier retreated last. It included populations harbouring haplotypes present into the three previous groups, and it had higher level of haplotype diversity per population (H = 0.548) and lower population differentiation (GST = 0.265), which indicates a zone of suture or secondary contact between the migration fronts of the three glacial populations. Introgression from Pinus contorta Dougl. var. latifolia Engelm. was apparent in one western population from Alberta. Altogether, these results indicate that the mitochondrial DNA variation of jack pine is geographically highly structured and it correlates well with large-scale patterns emerging from recent phylogeographical studies of other tree boreal species in North America.
Lotte Henke - One of the best experts on this subject based on the ideXlab platform.
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Usefulness of conventional blood groups, DNA-Minisatellites, and short tandem repeat polymorphisms in paternity testing: a comparison
Forensic Science International, 1999Co-Authors: Lotte Henke, Rolf Fimmers, S. Cleef, E. Josephi, Marlies Dülmer, Jürgen HenkeAbstract:Abstract A total of 215 paternity cases were analysed after testing 24 marker systems. Despite technical advantages of polymerase chain reaction related polymorphisms (automatisation, employment of robots, lesser requirements concerning of quality and quantity of DNA) it could be shown that the exclusive employment of a parentage testing kit is compromised by an increased risk of erroneous conclusions. It is estimated that in about 3–4% of the cases ambiguous situations have to be expected which are caused by the occurrence of single or double exclusions. In these cases it is impossible to decide whether the exclusions indicate either true nonpaternity or a de novo mutation. The situation might become even more complicated if an involvement of a close relative of the alleged father cannot be ruled out. We cautiously advance the hypothesis that in parentage testing DNA Minisatellite polymorphisms form an optimal set of tools.
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Mutation rate in human microsatellites.
American Journal of Human Genetics, 1999Co-Authors: Jürgen Henke, Lotte HenkeAbstract:To the Editor:It is common knowledge that mutation rates of DNA (Minisatellite and microsatellite) loci can differ by orders of magnitude. Obviously, the mutation rate is closely related to the degree of polymorphism, which in turn is expressed by the respective heterozygosity rate.In their article, Brinkmann et al. (1998xMutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Brinkmann, B, Klintschar, M, Neuhuber, F, Huhne, J, and Burkhard, R. Am J Hum Genet. 1998; 62: 1408–1415Abstract | Full Text | Full Text PDF | PubMed | Scopus (480)See all References1998) confirmed the observation that mutation events in the male germ line may be significantly more frequent than mutation events in the female germ line. They reported that the ratio of paternal to maternal mutations is an impressive 17:3. Because a similar “behavior” was already known for many DNA Minisatellites, this trend could have been expected for highly polymorphic short tandem-repeat loci as well (Henke et al. 1993xDNA-Minisatellite mutations: recent investigations concerning distribution and impact on parentage testing. Henke, J, Fimmers, R, Baur, MP, and Henke, L. Int J Legal Med. 1993; 105: 217–222Crossref | PubMed | Scopus (14)See all References1993; Olaisen et al. 1993xHuman VNTR mutation and sex. Olaisen, B, Bekkemoen, M, Hoff-Olsen, P, and Gill, P. : 63–69CrossrefSee all References1993; Henke and Henke 1995xRecent observations in human DNA-Minisatellite mutations. Henke, J and Henke, L. Int J Legal Med. 1995; 107: 204–208Crossref | PubMed | Scopus (12)See all References1995). If this is taken into consideration, the compilation of mutations in table 1table 1 gives rise to following questions: Why do Brinkmann et al. (1998xMutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Brinkmann, B, Klintschar, M, Neuhuber, F, Huhne, J, and Burkhard, R. Am J Hum Genet. 1998; 62: 1408–1415Abstract | Full Text | Full Text PDF | PubMed | Scopus (480)See all References1998) compile the overall number of meioses with respect to the number of mutations? If one takes into consideration that their data are extremely important in parentage testing, would it not be more meaningful to produce a table that unambiguously shows the frequency of mutations in paternal and in maternal meioses? Mutation rates that we found in a recent study are given in table 1table 1.Table 1No. of Maternal and Paternal Mutations and MeiosesNo. of Mutations/ No. of MeiosesLocusMaternalPaternalCSF1PO0/2370/165D13S3170/2580/178D18S510/2862/205D21S111/2673/189D3S13580/2570/176D5S8180/2580/178D7S8200/2562/176D8S11790/2130/149FGA0/3073/218ACTBP20/4025/315THO10/3940/301TPOX0/2400/167VWA1/2580/178
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Recent observations in human DNA-Minisatellite mutations
International Journal of Legal Medicine, 1995Co-Authors: Jürgen Henke, Lotte HenkeAbstract:We report maternal and paternal mutation rates at loci DIS7 (MS1), D7S21 (MS31), D12S11 (MS43A), and D7S22 (G3). The respective mutation rates were as follows: System Maternal meioses Paternal meioses D1S7 4.3% 4.2% D7S21 0.2% 1.2% D12S11 0.05% 0.4% D7S22 0.1% 0.8% At loci D7S21, D12S11, and D7S22 statistically significant differences in mutation rates exist between the sexes. No such difference was observed at locus DIS7. However inspection of the latter data reveals that by mutation at spermiogenesis approximately two-thirds of the fragments showed an addition of repetitive units, while a 50: 50 ratio was encountered in the series of maternal mutations. We also report the observation of naturally occurring 3-fragment patterns. Die Studie berichtet von den neuesten Daten zu Mutationsraten an den DNA-Minisatellit-Loci D1S7 (MS1), D7S21 (MS31), D12S11 (MS43A) und D7S22 (G3). Folgende Beobachtungen wurden gemacht: System Maternelle Meiosen Paternelle Meiosen D1S7 4.3% 4.2% D7S21 0.2% 1.2% D12S11 0.05% 0.4% D7S22 0.1% 0.8% Der Vergleich der mütterlichen und väterlichen Mutationsraten zeigt, daß signifikante Unterschiede an den Loci D7S21, D12S11 und D7S22 vorliegen. Am Locus DIS7 konnte ein derartiger Unterschied nicht beobachtet werden, doch zeigte sich hier, daß (fast) 40 mutierte väterliche Fragmente größer geworden waren, während 20 Fragmente durch die Mutation verkleinert wurden. Neben diesen Zahlen werden 2 Familien vorgestellt, in denen natürliche 3-Fragment-Muster beobachtet wurden.
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recent observations in human DNA Minisatellite mutations
International Journal of Legal Medicine, 1995Co-Authors: Jürgen Henke, Lotte HenkeAbstract:We report maternal and paternal mutation rates at loci DIS7 (MS1), D7S21 (MS31), D12S11 (MS43A), and D7S22 (G3). The respective mutation rates were as follows: System Maternal meioses Paternal meioses D1S7 4.3% 4.2% D7S21 0.2% 1.2% D12S11 0.05% 0.4% D7S22 0.1% 0.8% At loci D7S21, D12S11, and D7S22 statistically significant differences in mutation rates exist between the sexes. No such difference was observed at locus DIS7. However inspection of the latter data reveals that by mutation at spermiogenesis approximately two-thirds of the fragments showed an addition of repetitive units, while a 50: 50 ratio was encountered in the series of maternal mutations. We also report the observation of naturally occurring 3-fragment patterns.