7号染色体q21-q34区域上A/B型轴后多指（趾）畸形的一个新基因座。

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

作者信息

Galjaard Robert-Jan H, Smits Arie P T, Tuerlings Joep H A M, Bais Aagje G, Bertoli Avella Aida M, Breedveld Guido, de Graaff Esther, Oostra Ben A, Heutink Peter

机构信息

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

出版信息

Eur J Hum Genet. 2003 May;11(5):409-15. doi: 10.1038/sj.ejhg.5200982.

DOI:10.1038/sj.ejhg.5200982

PMID:12734547

Abstract

Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and articulates with the fifth or an additional metacarpal/metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait, with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient) on 7p13 caused by mutations in the GLI3 gene, PAPA2 on 13q21-q32 in a Turkish kindred with PAP-A only, and a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1-13.2. We identified a fourth locus in a large Dutch six-generation family with 31 individuals including 11 affecteds. Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis.

摘要

轴后多指（PAP）是指出现一个或多个额外的尺侧或腓侧手指或其部分结构。在PAP - A中，额外的手指发育完全，并与第五掌骨或额外的掌骨/跖骨相关节，而在PAP - B中则发育不全。孤立性PAP通常作为常染色体显性性状分离，表现多样。人类中已知有三个与PAP相关的基因座。位于7p13的PAPA1（一名患者同时患有PAP - A/B）由GLI3基因突变引起，位于13q21 - q32的PAPA2仅在一个患有PAP - A的土耳其家族中发现，第三个（PAPA3）在中国一个患有PAP - A/B的家族中位于19p13.1 - 13.2。我们在一个有31人（包括11名患者）的荷兰六代大家族中确定了第四个基因座。他们的表型从PAP - A、PAP - B到PAP - A/B不等，伴有或不伴有部分皮肤并指。我们进行了全基因组搜索，发现PAP与7号染色体上的标记物之间存在连锁关系。多点分析在D7S1799和D7S500处获得的最高对数似然比分数为3.34。