摘要:

SummaryMeiotic breakpoint panels for human chromosomes 2, 3, 4, 5, 6, 7, 8, 9, 10, 13, 14, 15, 17, 18, 20 and X were constructed from genotypes from the CEPH reference families. Each recombinant chromosome included has a breakpoint well‐supported with reference to defined quantitative criteria. The panels were constructed at both a low‐ resolution, useful for a first‐pass localization, and high‐resolution, for a more precise placement. The availability of such panels will reduce the number of genotyping experiments necessary to order new polymorphisms with respect to existing genetic markers. This paper shows only a representative sample of the breakpoints detected. The complete data are available on the World Wide Web URL (http:www.icnet.ukaxphgreurogemHTMLdata.html) or by anonymous ftp (ftp.gene.ucl.ac.uk inpubeurogemmapsbreak

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01614.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryAn algorithm for detecting well‐characterised breakpoints in human family data has been developed and implemented as a computer program. The well‐established program CRI‐Map is used to perform the necessary likelihood analysis and generate the individual chromosomes, and then a set of user‐defined parameters is used to detect the breakpoints, sort them by their position and classify them according to their support. A further program produces PostScript figures giving a visual representation of the breakpoints. The programs can be applied to data from human chromosomes, and the resulting breakpoint panels used to place new markers rapidly on to the map by typing only a few key individuals and their ancestors. A service has been established on the World Wide Web for chromosome 9, allowing workers to fill in an on‐line form requesting a suitable panel of breakpoints to facilitate the mapping of new markers. A key feature of this approach is that all of the computing is done whilst detecting the breakpoints, after which new markers can be positioned without any need for a computer. CROSSFIND has been used to generate all the meiotic breakpoint panels shown in the preceding paper by members of the Eurogem Collaboration (Cox

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01615.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryThe majority of published human mitochondrial DNA sequence data are confined to hypervariable region I in the control region. By contrast, this paper focusses on a nucleotide site in hypervariable region II. Unlike most non‐European populations whose mtDNA sequences have been studied in the literature, the British ‘white Caucasian’ population has a high level of variation at site 73 (following the site numbering by Andersonet al.1981). This variation appears to have its origin largely in a mutation from guanine to adenine at that site with an estimated minimum age between 15000 and 25000 years. The data of Piercyet al.(1993) suggest that roughly half of the British ‘white Caucasian’ mitochondrial gene pool is descended from a common maternal ancestor who carried this mutation at site 73. This site also plays a central role in distinguishing the five major European mtDNA clusters identified in Richardset al.(1996). We suggest that the lineages carrying an A at site 73, together with some other lineages, may have their origins in a small founder population which expanded after the last glacial maximum about 20000 years ago. We conclude that, in addition to region I sequences, site 73 is worth determining in studies of Caucasian po

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01616.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryApolipoprotein (apo) E has been discussed as a marker for cardiovascular risk, but information about lipid traits in healthy individuals having one of the rare apoE genotypes (ε4/ε2, ε2/ε2 or ε4/ε4) is scarce. Our work was designed to answer the following questions: 1. Are the allelic effects of ε2 and ε4 on lipid traits additive or dominant? 2. If there is additivity, do the allelic effects of ε2 and ε4 have the same magnitude? 3. Are the allelic effects neutralised in ε4/ε2 individuals who are under the influence of both rare alleles?Allelic effects on apoB and apoE serum levels were codominant. Allelic models are thus not adequate to study the influence of apoE polymorphism on these traits. Allelic effects were additive for total cholesterol, LDL‐C, HDL‐C and apoAI, with ε2 having a greater impact than ε4. Serum levels differed significantly between ε4/ε2 and ε3/ε3 individuals only for apoE (p<0ε001)

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01617.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryA study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent‐offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to another. There is an evidence of directional dominance for three body traits and for two craniofacial traits. None of the different parent‐offspring correlations is compatible with X‐linked inheritance. A greater maternal than paternal influence is evident for biacromial diameter but a greater paternal influence is seen for head height, nose height and for ear height and br

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01618.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SummaryWe consider looking at a single locus of a multilocus model, such as that for IDDM, in particular the use of the sib‐pair method concentrating attention on the influence of HL

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb01619.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.tb01620.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.tb01621.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.tb01622.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY