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Linkage study between congenital cataracts and five crystallin loci
Author(s) -
Barr Cathy L.,
Levin Alex V.,
Kovacs Ronald,
Muller Werner,
BarsoumHomsy Magda,
Zachary Dalila,
Clark Rakia A.,
Tsilfidis Catherine
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20157
Subject(s) - cataracts , genetics , linkage (software) , genetic linkage , crystallin , biology , gene , blindness , medicine , optometry
Congenital cataracts are a common cause of preventable blindness in children. We studied autosomal dominant congenital cataracts in 38 families and examined linkage between cataract loci and the crystallin genes on chromosomes 2, 11, 17, 21, and 22. We used clinical information to group families with phenotypically similar cataracts and analyzed the genetic data in these groups. Although LOD scores > 3.0 were not obtained, we found some support for linkage to four of the chromosomal regions examined, namely 2q33‐35, 17q11.2‐12, 21q22.3, and 22q11.2. © 2003 Wiley‐Liss, Inc.