摘要:

SummaryTo sample the diversity of allelic structures at the D7S21 (MS31A) locus in the Japanese, allele‐specific minisatellite variant repeat mapping using polymerase chain reaction (MVR‐PCR) was performed on genomic DNA from a number of Japanese individuals. Three polymorphic positions in the MS31A 5′ flanking DNA were typed from 214 un‐related Japanese, and the distribution of haplotypes was analysed. Allele‐specific MVR‐PCR, using primers that discriminate between different alleles at these polymorphic positions in heterozygous individuals, allows single alleles to be mapped from genomic DNA in approximately 80% of Japanese. 149 Japanese alleles have been mapped to date and all of them, except for two pairs of indistinguishable alleles, have different internal structures. More than half of the mapped alleles showed similar regions of internal structure to other alleles and were classified into groups on

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01191.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryComplement component C8 is a plasma glycoprotein consisting of three nonidentical polypeptide chains (α, β, γ) which are encoded by three separate genes (C8A, C8B, C8G). The γ chain whose functional role remains undefined is not related to any other complement protein but is a member of the lipocalins, a family of proteins that bind small hydrophobic ligands. The present report describes the first known polymorphisms for the human C8G gene, namely one polymorphic site in exon 1 (207T/G) and two polymorphic sites in intron 1 (213 + 37G → A; 213 + 65del3). Specific typing can be performed using simple polymerase chain reaction‐based assays. C8G genotyping in eight CEPH reference families demonstrated that C8G is closely linked to a series of marker loci located in the most telomeric region of chromosome 9q. Multipoint analysis placed C8G with 1000:1 support distal to D9S207. C8G is thus located at 9q34.3. Remarkably, this chromosomal region contains at least four other lipocali

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01192.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummarySome studies of mtDNA propose that contemporary Amerindians have descended from four haplotype groups, each defined by specific sets of polymorphisms. One recent study also found evidence of other potential founder haplotypes. We wanted to determine whether the four haplotypes in modern populations were also present in ancient South American aboriginals. We subjected mtDNA from Colombian mummies (470 to 1849 AD) to PCR amplification and restriction endonuclease analysis. The mtDNA D‐loop region was surveyed for sequence variation by restriction analysis and a segment of this region was sequenced for each mummy to characterize the haplotypes. Our mummies exhibited three of the four major characteristic haplotypes of Amerindian populations denned by four markers. With sequence data obtained in the ancient samples and published data on contemporary Amerindians it was possible to infer the origin of these six mummie

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01193.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryThe mitochondrial DNA (mtDNA) of 139 individuals from eight tribes which belong to four linguistic groups of the Brazilian Amazon Region was studied both by RFLP and by sequencing of the D‐loop region. RFLP analysis showed that 41 haplotypes (29%) belonged to haplogroup A, 39 (28%) to haplogroup B, 38 (27%) to haplogroup C., 19 (14%) to haplogroup D, and 2 (<2%) could not be assigned to any of the four haplogroups. Among the 92 individuals analyzed by direct sequencing of the D‐loop region, we observed 43 different haplotypes defined by 48 polymorphic points, while one haplotype could not be assigned to any of the clusters previously described. Joint analysis of data obtained by RFLP and by sequencing of mtDNA demonstrated that, regardless of the method of analysis, the mtDNA haplotypes of contemporary Amerindians cluster into four groups, similar to those previously described, even though 7% of the total sample or 12% of the haplotypes have discrepancies between results obtained by RFLP and sequencing. In addition to supporting the prevalence of four major haplogroups among contemporary Amerindians, our data are compatible with multiple founder haplotypes in each haplogroup, based on: i) a high prevalence of unusual haplotypes; ii) presence of multiple polymorphic sites shared by different haplogroups; iii) relative differences in nucleotide diversity based on RFLP or sequencing within the different haplogro

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01194.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryNucleotide sequences of the hypervariable segment I of the control region of the mtDNA were determined in 101 individuals: 54 Canary Islanders, 18 North African Berbers, 18 Spanish mainlanders and 11 sub‐Saharan Guineans. In spite of the fact that only members of the Fang tribe were analysed, nucleotide diversity in Guineans (θ× 100 = 2·33)is one of the highest found in African populations.Estimates of genetic contribution to the Canarians from their putative parental populations based on mtDNA (43·25 ± 1·38% Berbers, 35·54 ± 0·55% Spanish, 21·21 ± 1·92% Guineans) showed an important North African substrate. These mtDNA results, when compared with data based on nuclear markers, point to a strong male‐female asymmetry, 75% of the Spanish nuclear contribution was due to males and practically all the Berber and Guinean was due to females. These results are in agreement with the way that the Canary Islands were conquered.Pairwise difference distributions in Guineans and Berbers are compatible with the model of populations in expansion. Departures from a Poisson distribution for the Canarians and Spanish can be explained by admixture and the way of sampli

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01195.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryWe have analysed 302 bp of the first hypervariable region of the mitochondrial D‐loop in 271 individuals from different regions of the Iberian Peninsula and 85 individuals from Algeria. The Basque population is significantly different from neighbouring populations in terms of overall levels of diversity. This is because the majority of sequences in the Basques are restricted to the lineage group defined by the CRS (Cambridge Reference Sequence) and its derivatives although, like other Iberian populations, they showed a unimodal distribution of pairwise sequence differences. The timing of divergence of populations within Iberia points to a shared ancestry of all populations in the Upper Palaeolithic. Further genetic subdivision is apparent in Catalonia and Andalusia, with increased genetic diversity in the latter. Lineage diversity comparisons of Iberian populations with European (Tuscan) and North African (Algerian) populations shows the Iberian Peninsula to be more similar to other European populations, although a small number of Iberian lineages can be traced to North Afric

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01196.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryTwo point lod scores are widely used in pedigree analysis as they provide a fast and efficient method of establishing linkage. Groups of markers that lie in close proximity to one another can be formed by admitting any locus that is linked to at least one existing member of the group with lod score greater than some predetermined value. It seems natural to extend this technique to Radiation Hybrid Mapping both for constructing groups of tightly linked loci that may then be analysed using more powerful statistics and as a method of ordering in its own right.A general extension of two point analysis is derived and the problems associated with radiation hybrid data are discussed. In particular, the additional parameters representing the probabilities of different fragments being retained (which have no parallel in classical linkage analysis) lead to a range of estimators of the breakage probability, θ, which have equal and maximal likelihood. Ways of circumventing this problem are discussed along with the potential errors they introduce.Importantly the ambiguity in estimation of θ is not carried through to the lod score as this depends only on the maximum value of the likelihood and not on the particular value of θ at which it occurs. Thus even though two point analysis fails to provide robust estimates of either breakage probabilities or the distance between loci, it represents a simple and effective method of constructing linkage groups that may be analysed with more powerful statistical methods. This is particularly important given the large number of microsatellites, ESTs and candidate genes currently being typed on radiation hybri

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01197.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01198.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

Genomic Imprinting:Causes and Consequences. Edited by R. OHLSSON, K. HALL and M. RITZEN.Genetics of Criminal and Antisocial Behaviour.The Troubled Helix:Social and Psychological Implications of the New Human Genetics.Edited by T. MARTEAU and M. RICHARDS.Human Molecular Genetics. By T. STRACHAN and A. P. READ.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01199.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01200.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY