ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01164.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryIn the case of neonatal jaundice due to the human D antigen, mothers who have been jaundiced cannot bear a jaundiced child, and fathers who have been jaundiced beget fewer jaundiced sons than those who have not. Other characters may have a similar negative heritability.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01165.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.tb01166.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryThe minisatellite MS621 (D5S110) is a highly polymorphic tandem repeat locus which maps to the distal region of human chromosome 5p. Major repeat unit variants at D5S110 differ not by base substitutions but by differences in the repetition of an 11 bp sequence motif found within each repeat. The two major classes of repeat unit thus contain two (‘ dimeric ’= D‐type) or three (‘ trimeric ’= T‐type) copies of this short motif. Mapping the distribution of these D‐ and T‐type repeat units within alleles has allowed the analysis of the structural basis of allelic variation and of onede novomutation. In contrast to previous studies of some other highly polymorphic minisatellites, this analysis provided no clear evidence for polarized variab

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01167.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryThe gene MUC1 codes for a mucin‐type glycoprotein and like most of the other mucin genes shows variable number tandem repeat (VNTR) polymorphism within the coding region. A polymorphism due to a G/A substitution in exon 2, responsible for a genetically determined variation in splicing of the MUC1 transcript, has also been reported (Ligtenberget al.1990, 1991). Here we describe the detection of this nucleotide substitution polymorphism by single stranded conformational analysis of genomic DNA and we also report a CA repeat polymorphism within intron 6 of the gene. Haplotypes were determined in a series of families and the common alleles of these two polymorphisms were found to be associated. These results support the notion that the VNTR polymorphism in the coding sequence of MUC1 is not caused by unequal reciprocal recombination at meiosi

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01168.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryA panel of 22 hybrids was tested for the presence of the gene coding for human cysteine dioxygenase (CDO) by using human specific oligonucleotide primers in the polymerase chain reaction. Detection of human CDO completely correlated with the presence of human chromosome 5. A human total genome cosmid library was screened with a PCR product from the coding region of human CDO cDNA and the two positive clones identified were used in fluorescentin situhybridisation (FISH) analysis on metaphase chromosome spreads. Fluorescent signals were seen on chromosome 5q22–23. Interspecific backcross mapping in the mouse indicated thatCdo, the mouse homologue of CDO, is situated in the central region of mouse chromosome 18 which shares a region of homology with human chromosome

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01169.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryTwo hypervariable sequence segments in the control region of mitochondrial DNA were determined in samples of Bulgarians and Turks. The Turkish sample presented a higher degree of internal diversity, in terms of total number of variable nucleotides, as well as in the average pairwise nucleotide difference. Pairwise difference distributions were built for both samples, yielding smooth bell shapes in agreement with the Rogers and Harpending model. The Bulgarian and Turkish data were compared with several European and W. Asian Caucasoid populations (Basques, Tuscans, Sardinians, British, Middle Easterners and Indians). Mean pairwise differences suggest that a demographic expansion occurred sequentially in the Middle East, through Turkey, to the rest of Europe (Bulgaria included). Current mutation rate estimates date this expansion in times ranging between 50000 and 100000 years ago and, thus, would correspond to the arrival of anatomically modern humans in Europe. Sequence trees for segment I show that European and Middle Eastern sequences derived from the reference sequence. Coalescence times for segment I sequences agree with those predicted by pairwise distributions. Genetic trees were constructed between populations and revealed an extreme homogeneity between European samples.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01170.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummarySaguenay Lac‐Saint‐Jean (SLSJ) is a geographically isolated region of northeastern Quebec in which several autosomal recessive disorders have a high incidence. We calculated the inbreeding coefficients of 567 probands and compared them to 1701 matched control individuals. The mean inbreeding coefficient of the group containing all 567 probands was 2·73 times higher than that of the controls (0·001772 versus 0·00065). Thirteen percent (75/567) of the probands were inbred, but only 5% were born to matings between spouses related as second‐degree cousins or closer. No marriage between uncle and niece and only two marriages between first‐degree cousins were identified in the disorder group. These results strongly suggest that the high incidence of the autosomal recessive disorders in SLSJ is the result of a foun

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01171.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryThe CTG trinucleotide repeat, in the myotonic dystrophy (DM) myotonin protein kinase gene, was studied by PCR analysis in a total of 246 unrelated South African Bantu‐speaking Negroids, 116 San and 27 Pygmies. The size and distribution of the CTG repeat were determined and showed that the alleles ranged in length from 5 to 22 repeats. The most common CTG repeat is 5 (25% of chromosomes) in the South African Negroids but 11 (27 % of chromosomes) in the San population and 12 (22% of chromosomes) in the Pygmies. The southern African Bantu‐speaking Negroids and San were found to have significantly fewer large repeat length alleles than do Caucasoid and Japanese populations. Since DM has not been observed in southern African Negroids, it is possible that the occurrence of fewer large CTG repeats in the normal range may, in part, explain this absence. It seems likely, that the rare DM mutation event postulated to have occurred on a specific chromosomal haplotype, occurred after the migration of humans from Afr

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01172.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryExcept for subgroup A2and minor A, O and B alleles (Ax, O2and B(A)), which occur at low frequencies in the population, the major ABO alleles are considered to be homogeneous entities. The present study is the first demonstration of an extensive variability linked to the more common alleles of the blood A and O genes by digestion of the genomic DNA with different restriction enzymes and hybridization with a probe generated by PCR amplification of a segment of the last exon of the glycosyltransferase gene. For group A in Whites, two or three‐allele fragment length polymorphisms (RFLP) were demonstrated byHincII,TaqI andHintI; for group O two to five‐allele RFLP were detected in Blacks, Whites and Amerindians with restriction enzymesHincII,BglI,KpnI,TaqI andHintI. These polymorphisms probably originated by single‐base changes, although a length variation due to variable number of tandem repeats cannot be ruled out for some. Allelic association between the different restriction sites permitted the identification of seven O allele haplotypes in Blacks, and two in Whites and Indians. Three different haplotypes were identified for group A in Whites. The greater heterogeneity of the O allele among the Blacks as compared with Whites and Indians is similar to that observed for other gene systems. The polymorphisms of the histoblood group ABH antigen genes seem a useful tool for population genetics, phylogenetics and evolution st

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01173.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY