A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32
نویسندگان
چکیده
منابع مشابه
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus f...
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T he term hereditary spastic paraplegia (HSP) is used to describe a group of clinically and genetically heterogeneous disorders in which the defining clinical feature is progressive spasticity and weakness of the lower limbs. The phenotype is traditionally classified as ‘‘pure’’ when symptoms and signs are generally confined to those of a progressive spastic paraparesis, or ‘‘complicated’’ when...
متن کاملA novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.
G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...
متن کاملMapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q
PURPOSE To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected famil...
متن کاملA new locus for autosomal dominant congenital cataracts maps to chromosome 3.
PURPOSE To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region. METHODS A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized. A genome-wide screen was conducted with a set of markers spaced at 10- to 15-cM intervals, and linkage was assessed using stan...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1998
ISSN: 0002-9297
DOI: 10.1086/301843