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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have studied linkage disequilibrium between CTG repeats and an Alu insertion/deletion polymorphism at the myotonin protein kinase gene (DMPK) in 102 Japanese families, of which 93 were affected with myotonic dystrophy (DM). All of the affected chromosomes are in complete linkage disequilibrium with the Alu insertion allele. Among the normal chromosomes, alleles of CTG repeats 5 and ≥ 17 are exclusively associated with the insertion allele. On the other hand, intermediate alleles of 11– 16 repeats show a significantly greater association with the deletion allele. A strikingly similar pattern of linkage disequilibrium observed in European populations suggests a common origin of the DM mutation in the Japanese and European populations.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have analyzed the hypervariable locus D17S5 in four well-defined human populations (Kachari of Northeast India; Dogrib Indian of Canada; New Guinea Highlander of Papua New Guinea; and a relatively homogeneous Caucasian population of North German extraction) using both Southern blot analysis and the polymerase chain reaction (PCR) technique to; (1) compare the efficiency and limitation of Southern blotting versus PCR-based techniques in genotyping variable number of tandem repeat loci, and (2) provide allele frequency data at this locus in these four anthropologically defined populations. Preferential PCR amplification of smaller alleles associated with D17S5 was corrected by lowering the DNA template concentration to 200ng, and by reducing the extension time to 2 min. A perfect correspondence was observed between the results from Southern blot and PCR analysis in all but one sample. A very large allele, of approximately 24 to 25 repeat units, detected by Southern blotting, could not be amplified by PCR, resulting in an incorrect genotyping rate of less than 0.5%. Considering the grave consequences of mistyping in forensic and paternity testing, it is suggested that heterozygous controls consisting of large and small alleles should be employed in each PCR experiment, and PCR-generated homozygotes should be confirmed by Southern blotting. Significant variation in the number and frequency of alleles at this locus was observed in the four examined populations. A total of 15 different alleles were detected. The average heterozygosity varied from 54% in the Dogrib to 89% in the Kachari. No heterozygote deficiency was observed at this locus in any of the examined populations.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Northeast India, and German Caucasians) using the polymerase chain reaction (PCR) technique. In the pooled sample of 443 unrelated individuals 20 segregating alleles were detected. A trimodal pattern of allelic distribution is present in the majority of populations and is indicative of the evolutionary antiquity of the polymorphism at this locus. In spite of the observed high degree of polymorphism (expected heterozygosity 56%–86%), with a single exception — the marginally significant P value (0.04) of the exact test in American Samoans — the genotype distributions in all populations conform to their respective Hardy-Weinberg expectations. Summary statistics indicate that, in general, the allele frequency distribution at this locus may be approximated by the infinite allele model. The data also demonstrate that alleles that are shared by all populations have the highest average frequency within populations. Furthermore, the kinship bioassay analysis demonstrates that the extensive variation observed at the D1S80 locus is at the interindividual within population level, which dwarfs any interpopulation allele frequency variation, consistent with the population dynamics of hypervariable polymorphisms. These characteristics of the D1S80 locus make it a very useful marker for population genetic research, genetic linkage studies, forensic identification of individuals, and for determination of biological relatedness of individuals.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have studied linkage disequilibrium between CTG repeats and anAlu insertion/deletion polymorphism at the myotonin protein kinase gene (DMPK) in 102 Japanese families, of which 93 were affected with myotonic dystrophy (DM). All of the affected chromosomes are in complete linkage disequilibrium with theAlu insertion allele. Among the normal chromosomes, alleles of CTG repeats 5 and ⩾ 17 are exclusively associated with the insertion allele. On the other hand, intermediate alleles of 11-6 repeats show a significantly greater association with the deletion allele. A strikingly similar pattern of linkage disequilibrium observed in European populations suggests a common origin of the DM mutation in the Japanese and European populations.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The spread of culture and language in human populations is explained by two alternative models: the demic diffusion model, which involves mass movement of people; and the cultural diffusion model, which refers to cultural impact between populations and involves limited genetic exchange between ...
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. By using 19 Y chromosome biallelic markers and 3 Y chromosome microsatellite markers, we analyzed the genetic structure of 31 indigenous Sino-Tibetan speaking populations (607 individuals) currently residing in East, Southeast, and South Asia. Our results showed that a T to C mutation at locus M122 is highly prevalent in almost all of the Sino-Tibetan populations, implying a strong genetic affinity among populations in the same language family. Furthermore, the extremely high frequency of H8, a haplotype derived from M122C, in the Sino-Tibetan speaking populations in the Himalayas including Tibet and northeast India indicated a strong bottleneck effect that occurred during a westward and then southward migration of the founding population of Tibeto-Burmans. We, therefore, postulate that the ancient people, who lived in the upper-middle Yellow River basin about 10,000 years ago and developed one of the earliest Neolithic cultures in East Asia, were the ancestors of modern Sino-Tibetan populations.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 172-174 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The Kachari in upper Assam, a Bodo tribe whose language belongs to the Tibeto-Burman family, have a 0.5 frequency of the haemoglobin E gene (HbβE), the highest prevalence of an abnormal haemoglobin gene so far reported. In view of this high prevalence, the reproductive performance of 200 Kachari couples with different Hbβ genotypes and the prereproductive mortality of their offspring were examined. The differences of relative fertility observed were very small and there was no differential mortality of children. These findings indicate that at present there is no selection at the haemoglobin β-chain locus in the Kachari population.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The distribution of the hemoglobin Constant Spring (Hb CS) gene in eight populations in Southeast Asia (including Assam) was determined using oligonucleotide hybridization. Hb CS was absent in two Assamese populations with a high prevalence of Hb E. The Hb CS gene frequency was 0.033 in northern Thailand and near 0.01 in central Thailand and Cambodia. High frequencies, between 0.05 and 0.06, were observed in northeastern Thailand. The present data and a similar study in Laotians suggest that the Lao-speaking populations of the Mekong River basin in northeastern Thailand and Laos have the highest frequencies of the Hb CS gene in Southeast Asia.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 30 (1975), S. 187-191 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Im Jahre 1972 wurden bei den Ahom, einer mongoloiden Bevölkerung in Oberassam, hohe Frequenzen des Hämoglobin E-Gens (HbβE) gefunden. Die vorliegende Untersuchung bestätigt Genfrequenzen von HbβE zwischen 0,3 und 0.35 für die Ahom in einer größeren Stichprobe aus anderen Gebieten von Oberassam Eine noch höhere Frequenz von HbβE wurde in der Kachari-Bevölkerung, einem Zweig der tibetobirmanischen Bodo, gefunden. Diese Bevölkerung zeight mit 0,5 die bisher höchste Frequenz eines abnormalen Hämoglobin-Gens. Die Frequenz von HbβE in diesen Gruppen wird mit der bei der kaukasoiden assamesischen Bevölkerung und bei den austroasiatischen Khasi verglichen.
    Notes: Summary A high frequency of the haemoglobin E gene (HbβE) had been found in 1972 in the Ahom, a mongoloid population in Upper Assam. The present study confirms frequencies between 0.3 and 0.35 for this population in a larger sample from different areas. An even higher frequency near 0.5 was found in the Kachari of Upper Assam, a tribe of the tibetoburman Bodo group. HbβE frequencies in these groups are compared with the frequencies in the general Assamese population and the austroasiatic Khasi of Meghalaya.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 0173-0835
    Keywords: Short tandem repeat loci ; Forensics ; Gene diversity ; Population genetics ; Genetic distance ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: To study the level of intra- and inter-population variation at hypervariable DNA loci, we have characterized 15 human populations of diverse ethnic and geographic origins at six short tandem repeat loci by using the polymerase chain reaction. Even though the spectrum of allelic variation is quite broad and there are substantial differences in allele frequency distributions among populations, in general, populations within a major racial group show a greater degree of similarity. This observation is reflected in the analysis of gene diversity. When the total diversity is apportioned, the maximum variation becomes attributable to inter-individual differences within a population; of the variation that is attributable to differences between populations within a racial group and differences between racial groups, the former is smaller than the latter. Separate analysis of gene diversity for each of the major population groups based on geographic and ethnic relationship shows that the total gene diversity is higher for the larger racial groups, namely, African, Caucasian and Mongoloid, than the American Indians and the Pacific Islanders. As expected, a reciprocal relationship between gene diversity and FST levels is observed. Higher values of FST in the American Indian and the Pacific Islanders may reflect smaller population size and a higher level of isolation. An analysis of genetic distance encompassing the populations belonging to the three major racial groups recognizes three distinct clusters - all the populations of African affiliation cluster together, as do the Caucasian affiliated and the Mongoloid groups, in two distinct clusters. Interestingly, three broadly classified cosmopolitan US populations, namely, US White, US Black and US Asian, cluster with their ancestrally related populations. This study dispels some of the concerns regarding the applicability of DNA typing data for forensic use.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
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