Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin

被引：15

作者：

Bardien-Kruger, S

Geenberg, J

Tubb, B

Bryan, J

Queimado, L

Lovett, M

Ramesar, RS

机构：

[1] Univ Cape Town, Sch Med, Dept Human Genet, ZA-7925 Cape Town, South Africa

[2] Baylor Coll Med, Dept Cell Biol, Houston, TX 77030 USA

[3] Univ Texas, SW Med Ctr, McDermott Ctr, Dallas, TX USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1999年 / 7卷 / 03期

关键词：

retinitis pigmentosa; RP17; fine mapping; YAC contig; retinal fascin;

D O I：

10.1038/sj.ejhg.5200302

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The RP17 locus for autosomal dominant retinitis pigmentosa has previously been mapped to chromosome 17q by linkage analysis. Two unrelated South African families are linked to this locus and the identification of key recombination events assigned the RP17 locus to a 10 cM interval on 17q22. The work reported here refines the mapping of the locus from a 10 cM to a 1 cM interval between the microsatellite markers D17S1604 and D17S948. A physical map of this interval was constructed using information from the Whitehead/MIT YAC contig WC 17.8. Sequence-tagged site (STS) content mapping of seven overlapping YACs from this contig was employed in order to build the map. A BAC library was screened to cover a gap in the YAC contig and two positive BACs were identified. Intragenic polymorphisms in the retinal fascin gene provided evidence for the exclusion of this candidate as the RP17 disease gene.

引用

页码：332 / 338

页数：7

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