Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32.
نویسندگان
چکیده
منابع مشابه
QTL influencing blood pressure maps to the region of PPH1 on chromosome 2q31-34 in Old Order Amish.
BACKGROUND Hypertension is a major risk factor for coronary heart disease, stroke, congestive heart failure, renal insufficiency, and peripheral vascular disease. Although the genetic contribution to variation in blood pressure is well recognized, the specific genes involved are mostly unknown. We carried out a genome-wide scan to identify loci influencing blood pressure in the Old Order Amish ...
متن کاملAbnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene.
BACKGROUND Familial primary pulmonary hypertension (PPH) is an autosomal-dominant inherited disease with incomplete penetrance and poor prognosis. This study was performed to examine whether asymptomatic carriers of a mutated PPH gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise. METHODS AND RESULTS Stress Doppler echocardiography...
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BACKGROUND Inherited gene defects are an important cause of dilated cardiomyopathy. Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown. METHODS AND RESULTS We clinically evaluated 3 generations of a kindred with autosomal dominant transmission of dilated cardi...
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A genome-wide linkage scan for endurance training-induced changes in submaximal exercise stroke volume (DeltaSV50) in the HERITAGE Family Study revealed two chromosomal regions (2q31-q32 and 10p11.2) with at least suggestive evidence of linkage among white families. Here we report a further characterization of the quantitative trait locus (QTL) in chromosome 2q31 and provide evidence that titin...
متن کاملBreakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.
Mesomelic dysplasia (MD) is characterised by mildly short stature and shortening of the middle segments of the limbs. There are several subtypes of MD including dyschondrosteosis (Leri-Weill type), Langer type, Nivergelt type, Robinow type, Reinhardt type, Kozlowski-Reardon type, Werner type, and mesomelic dysplasia with synostoses. Ventruto et al reported an Italian family in which four member...
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ورودعنوان ژورنال:
- Chest
دوره 114 1 Suppl شماره
صفحات -
تاریخ انتشار 1998