A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

被引：67

作者：

Heus, HC

Hing, A

van Baren, MJ

Joose, M

Breedveld, GJ

Wang, JC

Burgess, A

Donnis-Keller, H

Berglund, C

Zguricas, J

Scherer, SW

Rommens, JM

Oostra, BA

Heutink, P

机构：

[1] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

[2] Washington Univ, Sch Med, Dept Surg, St Louis, MO 63110 USA

[3] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada

[4] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

[5] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada

来源：

GENOMICS | 1999年 / 57卷 / 03期

关键词：

D O I：

10.1006/geno.1999.5796

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger, A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a detailed physical map of the preaxial polydactyly candidate region. With a combination of methods we identified and positioned 11 transcripts within this map. By recombination analysis on families with preaxial polydactyly, using newly developed polymorphic markers, we were able to reduce the candidate region to approximately 450 kb. The homeobox gene HLXB9, a putative receptor C70rf2, and two transcripts of unknown function, C70rf3 and C70rf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly. (C) 1999 Academic Press.

引用

页码：342 / 351

页数：10

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