A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32
Article Abstract:
A gene associated with isolated congenital microphthalmia (CMIC) has been mapped to chromosome 14q32, probably between markers D14S987 and D14S267. The condition is inherited as an autosomal recessive trait in a five-generation consanguineous family from Pakistan with six affected members living. Over 150 polymorphic markers were typed for 16 family members, and homozygosity mapping was carried out.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24
Article Abstract:
Research on a family from India has linked childhood absence epilepsy (CAE) to a specific chromosome using electroencephalogram spike and wave complexes. CAE with tonic-clonic seizures was studied using model-free affected-pedigree member methodology and two-point linkage analysis. Clinical and electroencephalographic traits implicated chromosome 8q24, assuming autosomal dominant inheritance.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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