A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

doi:10.1007/s004390000289

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Article

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Human genetics - 1 May 2000

Ren Z, Li A, Shastry B S, Padma T, Ayyagari R, Scott M H, Parks M M, Kaiser-Kupfer M I, Hejtmancik J F

Abstract excerpt

A seven-generation family with 30 members affected by highly variable autosomal dominant zonular pulverulent cataracts has been previously described. We have localized the cataracts to a 19-cM interval on chromosome 2q33-q35 including the gamma-crystallin gene cluster. Maximum lod scores are 4.56 (theta=0.02) with D2S157, 3.66 (theta=0.12) with D2S72, and 3.57 (theta=0.052) with CRYG. Sequencing and...

Topics

Alleles
Base Sequence
Cataract
Chromosomes, Human, Pair 2
Crystallins
DNA
DNA Primers
Exons
Female
Genes, Dominant
Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Molecular Sequence Data

Mutation

Pedigree

Promoter Regions, Genetic

Pseudogenes

Source

Open in PubMed

Identifiers

PMID: 10914683
DOI: 10.1007/s004390000289

Provenance

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