نتایج جستجو برای: autozygosity mapping
تعداد نتایج: 198456 فیلتر نتایج به سال:
BACKGROUND Juvenile-onset cataracts are known among the Hutterites of North America. Despite being identified over 30 years ago, this autosomal recessive condition has not been mapped, and the disease gene is unknown. METHODS We performed whole exome sequencing of three Hutterite-type cataract trios and follow-up genotyping and mapping in four extended kindreds. RESULTS Trio exomes enabled ...
Rare dominant genes with high penetrance can be identified by linkage without inbreeding, whereas rare recessive genes with high penetrance are most efficiently recognized by autozygosity mapping of homozygotes in pedigrees with preferential inbreeding. On the contrary, complex inheritance is characterized by common genes with low penetrance, for which family studies and inbreeding are ineffici...
Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease-causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome-wide SNP genotyping microarrays and subsequently of exome sequencing. Although these methods have simplified the generation of experimental data, its a...
hearing loss (hl) is the most frequent sensory defect present in 1 of every 500 newborns. in developed countries, at least 50% of cases are caused genetic factors, most often resulting in nonsyndromic hl (70%), which is usually autosomal recessive (80%). to date, fifty genes associated with autosomal recessive non-syndromic hearing loss (arnshl) have been reported. the aim of this study was to...
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