An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12
نویسندگان
چکیده
منابع مشابه
A new locus for autosomal dominant cataract on chromosome 12q13.
PURPOSE To map the gene for autosomal dominant cataracts (ADC) in an American white family of European descent. METHODS Ophthalmic examinations and linkage analyses using a variety of polymorphisms were performed; two-point lod scores calculated. RESULTS Affected individuals (14 studied) exhibited variable expressivity of embryonal nuclear opacities based on morphology, location within the ...
متن کاملA locus for autosomal dominant anterior polar cataract on chromosome 17p.
Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained sign...
متن کاملLETTER TO JMG A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...
متن کاملA locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...
متن کاملA new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q
PURPOSE To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC). METHODS A Chinese family with ADCC was identified and characterized. All the members were genotyped with microsatellite markers at genes and loci that were considered to be associated with hereditary cataracts. Linkage analysis was performed after genotyping. Two-point Logarithm of odd...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200485