摘要:

SUMMARYWe have determined the allele frequencies and pairwise linkage disequilibria of restriction fragment length polymorphisms (RFLPs) distributed over the entire COL2A1 gene (spanning 23.6 kb) in a population of unrelated Dutch Caucasians. Pairwise linkage disequilibrium analysis of RFLP sites between exon 5B and 51 indicated a high degree of partly positive (the rare alleles of both loci are associated) and partly negative (the rare allele is associated with the common allele) linkage disequilibrium.The high degree of linkage disequilibrium enabled the assignment of 13 out of 128 possible haplotypes with 7 RFLPs. An evolutionary tree of these haplotypes was derived using a minimum spanning tree approach, indicating at least two ancestral haplotypes. Our data indicate that disease related population studies involving the COL2A1 gene should include a minimum of 4 RFLPs (D9, A9, H33, P51) to obtain 98% of possible haplotypes occurring.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00422.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYCofilin is a widely‐distributed, intracellular, actin binding protein which is involved in the translocation of actin‐cofilin complex from cytoplasm to nucleus. We have cloned a non‐muscle‐type cofilin (CFL1) from a human promyelocytic cDNA library and mapped this to human chromosome 11 by PCR amplification of 3' untranslated sequence in a panel of rodent‐human somatic cell hybrids, and to the interval 11q12‐q13.2 in a chromosome 11 somatic cell hybrid mapping panel. Confirmation of regional localisation to 11q13 has been obtained by fluorescentin situhybridisation of genomic cosmid clones, by demonstration of the presence of both SEA (the human homologue of avian retrovirus pro viral tyrosine kinase, 11q13) and CFL1 in some of these clones and by close linkage of CFL1 to SEA in a panel of high‐dose irradiation hybrids.We have identified human muscle‐type cofilin sequences by comparison of human expressed sequence tags with M‐type cofilins of other species and we have mapped the human M‐type cofilin, CFL

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00423.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYA somatic cell hybrid mapping panel has been constructed which allows subdivision of human chromosome 1 into 8 distinct subregions. All of the hybrids carry copies of chromosome 1 with specific deletions and the position of the breakpoints has been determined relative to the location of microsatellite markers in the genetic linkage map produced by Genethon. The majority of the breakpoints can be positioned between adjacent loci on the map. The usefulness of this hybrid panel for physical mapping has been demonstrated by the regional assignment of 6 novel STS markers made from Alu‐PCR clones generated from a hybrid which contains the short arm of chromosome

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00424.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYThe combined use of surnames, which simulate selectively neutral genetic markers, and HLA genes may constitute a useful tool for the genetic survey of a small area. We found a coincidence between HLA genetic structure and surname ‘selectively neutral’ pattern, in an Italian province, although HLA genes indicate a more pronounced genetic isolation for one particular subregion of the province. The patchiness of HLA allele distribution that is sometimes created by drift and/or selection can be used as the basis both of anthropological and of epidemiological studies. The creation of genetic maps of relatively small areas may also constitute a tool for the selection of bone marrow don

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00425.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYWe have investigated the transmission of the sickle cell gene in relation to tribal structure, and genetic fitness in a primitive Indian tribal population, the Baiga. Factors operating on gene frequency include protection of AS individuals against falciparum malaria, a high frequency of genetic factors capable of moderating the severity of sickle cell anaemia (α‐thalassaemia and Xmn I polymorphism in G gamma gene), a high frequency of consanguineous marriage, and reproductive compensation by couples at risk for sickle cell anaemia. The study incidentally made it possible to measure the extent of ‘social parenting’ in such a tribal society for the first time: deviation from expectation in the distribution of the Hb A and S genes within families suggests that up to 30 % of children may not be offspring of their ostensible p

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00426.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYThe history of the statistical estimation of linkage is traced from its beginnings in 1912 to its coming‐of‐age in 1928, with special reference to the forgotten contribution of G. U. Yule and F. L. Engledow in 1914 introducing the method of minimum χ2as the first efficient proce

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00427.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

SUMMARYA number of ways of combining two or more independent estimates of the same recombination fraction can be found in the literature. We revisit this topic in the context of human gene mapping, and explore the value of transforming the recombination fraction to a new parameter whose log‐likelihood function is more nearly quadratic. It is shown that the arcsine of the cube‐root is one such function. These observations lead naturally to a way of summarizing and combining the summarized set of log‐likelihood functions of a common recombination fraction. This idea is illustrated using pedigree data concerning six loci on chromosome 10 from the CEPH consortium. A comparison is also made with the method of summarizing and combining using ‘equivalent numbers’ of recombinants and informativ

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00428.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

The Surfeit locus contains at least six tightly clustered housekeeping genes (Surf‐1 to ‐6) with novel features (Huxley&Fried, 1990). In contrast to the tens to hundreds of kilobases found between most adjacent mammalian genes only a small region separates any two adjacent Surfeit genes. The organization of the Surfeit locus and the juxtaposition of the Surfeit genes is conserved between mouse, human and chicken (600 million years of divergent evolution) (Williamset al.1988; Yonet al.1993; Colomboet al.1992) indicating that the Surfeit locus gene organization may have biological significance. The Surfeit locus has been mapped to human chromosome band 9q34, within the candidate region for Tuberous Sclerosis 1 (TSC1) (Yonet al.1993). In the process of screening for mutations correlated with TSC1 by single strand conformation polymorphism (SSCP) (Oritaet al.1989) in this genomic region we detected a polymorphism which occurs at a high freque

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00429.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

We wish to draw attention to the fact that population stratifications can produce a bias towards yielding false positive linkage results when founder genotypes are missing. It is now fairly well known that misspecification of allele frequencies can produce such a bias ‐ if a common allele is misspecified as rare then the fact that it is frequently observed among affected individuals will be incorrectly taken as evidence of increased sharing of alleles identical‐by‐descent (Ott, 1992). What may be less widely recognized is that similar effects can occur even if the correct population allele frequencies are used. Independently of us, Milleret al.(1995) and Guet al.(1995) have recently shown that population stratifications can produce false positive linkage results for Lange's (1985) identity‐by‐state affected sib‐set analysis and for the affected‐pedigree‐member method (APM, Weeks&Lange, 1988). In fact, the problem applies to any method of linkage analysis when applied to datasets with u

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1996.tb00430.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.tb00431.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY