A New Locus on Chromosome 12p13.3 for Pseudohypoaldosteronism Type II, an Autosomal Dominant Form of Hypertension
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 new form of autosomal dominant arthrogryposis.
We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.
متن کاملNew locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies.
BACKGROUND Mitral valve prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. To date, 2 MVP loci have been described, but the defective genes have yet to be discovered. In the present study, we analyzed a large family segregating MVP, and identified a new locus, MMVP3. This study and others have enabled us to explore mitral val...
متن کاملAutosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24.
Focal segmental glomerulosclerosis (FSGS) and Alport syndrome (AS) are two major causes of end-stage renal disease (ESRD). A few families with autosomal dominant FSGS have been reported with linkage to chromosome 19q13 or 11q22, while AS is usually linked to mutations in type IV collagen (COL4) subunit genes. A phenotype resembling AS may also be seen with myosin heavy chain-9 (MYH9) gene mutat...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2000
ISSN: 0002-9297
DOI: 10.1086/303020