Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families.
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چکیده
منابع مشابه
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Seq...
متن کاملGenetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...
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Autozygosity mapping in consanguineous families has proven to be a powerful method for identifying recessive disease genes. Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). In the current study, we so...
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عنوان ژورنال:
- Acta dermato-venereologica
دوره 90 1 شماره
صفحات -
تاریخ انتشار 2010