Human Molecular Genetics, Vol 5, 699-703, Copyright © 1996 by Oxford University Press
EI Rogaev, EA Rogaeva, GI Korovaitseva, LA Farrer, AN Petrin, SA Keryanov, S Turaeva, I Chumakov, P St. George-Hyslop and EK Ginter
Cataract is one of the major causes of blindness in humans. We describe
here an autosomal dominant polymorphic congenital cataract (PCC) which is
characterised by wide variations in phenotype of non-nuclear lens
opacities, even among affected members of the same family. PCC families
included a large, unique pedigree (254 members, 103 affected individuals),
and genetic linkage was conducted using a variety of polymorphic markers.
Evidence for linkage was found for chromosome 2q33- 35 with PCC mapping
near D2S72 and TNP1. A tri-nucleotide microsatellite marker for
gamma-crystallin B gene (CRYG1) was found to co-segregate with PCC and
yielded a maximum lod score of 10.62 at (theta = 0). A multipoint analysis
demonstrated that the most probable location of the PCC gene was within an
8 cM genetic interval containing the gamma-crystallin gene cluster. These
data provide strong evidence of the existence of an autosomal dominant
mutation for PCC in or near the gamma-crystallin gene cluster. This defect
is characterised by complete penetrance but variable expression of the
cataract phenotype. Our study also suggests that non-nuclear human
cataracts might be caused by some abnormality in gamma-crystallin genes.
ARTICLES
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35
Laboratory of Molecular Brain Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
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