A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34
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DOI：
10.1038/sj.ejhg.5200982
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发表时间：
2003-05-01
影响因子：
5.2
通讯作者：
Heutink, P
中科院分区：
文献类型：
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作者：
Galjaard, RJH;Smits, APT;Heutink, P
轴后多指畸形（Postaxial polydactyly，PAP）是指多出一个或多个尺、腓侧足趾或其部分，在PAP-A中，多出的足趾发育完全，与第五掌骨或另一掌骨/跖骨相连，而在PAP-B中，多出的足趾发育不全。单独的PAP通常分离为常染色体显性性状，具有可变表达。已知人类PAP有三个基因座。PAPA 1（包括一名患者的PAP-A/B）位于7 p13，由GL 13基因突变引起，PAPA 2位于13 q21-q32，在一个土耳其家系中仅具有PAP-A，第三个（PAPA 3）在一个中国家系中具有PAP-A/B，位于19 p13.1 -13.2。我们确定了第四个位点在一个大型的荷兰六代家庭31个人，包括11个affecteds。其表型从PAP-A、PAP-B到PAP-A/B不等，伴或不伴部分皮肤并指。我们进行了全基因组搜索，发现PAP和染色体7 q上的标记之间的连锁。采用多点分析，在D 7S 1799和D 7S 500获得的最高LOD评分为3.34。
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 GLl3 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.