African American hypertensive nephropathy maps to a new locus on chromosome 9q31-q32.
African American hypertensive nephropathy maps to a new locus on chromosome 9q31-q32.
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非裔美国人高血压肾病定位于染色体 9q31-q32 上的一个新基因座。
DOI：
10.1086/377184
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发表时间：
2003
影响因子：
9.8
通讯作者：
Vats,Abhay
中科院分区：
文献类型：
--
作者：
Chung,KiWha;Ferrell,RobertE;Ellis,Demetrius;Barmada,Michael;Moritz,Michael;Finegold,DavidN;Jaffe,Ronald;Vats,Abhay
Hypertensive nephropathy (HN) and focal segmental glomerulosclerosis (FSGS) are significant causes of end-stage renal disease (ESRD), but no genes or loci have been associated with this phenotype among African Americans, a group at high risk. We performed a genomewide linkage scan with ∼400 microsatellite markers on 23 individuals of a large four-generation African American family with 18 affected individuals (7 with ESRD), in which the 13-year-old proband (also with ESRD) presented with hypertension and proteinuria (2–4 g/day) and underwent a kidney biopsy that revealed FSGS-like lesions with arteriolar thickening. A genomewide scan revealed LOD scores of >2.5 for markers on chromosomes 3 and 9, and fine mapping was performed on 5 additional members (total 28 members) that showed a maximum multipoint LOD score of 5.4 in the 9q31-q32 region, under an autosomal dominant model with 99% penetrance. This 8-cM (6-Mb) region is flanked by markers D9S172 and D9S105, and further candidate gene sequencing studies excluded the coding regions of three genes (ACTL7A, ACTL7B, and CTNNAL1). To our knowledge, this is the first report of a locus, denoted as "HNP1," for the HN/FSGS phenotype in a large African American family with dominantly inherited nephropathy characterized by ESRD, hypertension, and some features of FSGS.
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家族性肾病综合征：临床谱和与染色体 19q13 的连锁。
影响因子：
19.6
作者：
A. Vats;Alice Nayak;Demetrius Ellis;Parmjeet S. Randhawa;David N. Finegold;Kara L. Levinson;Robert E. Ferrell
通讯作者：
Robert E. Ferrell
用于一般谱系的多位点单倍型分析的计算机程序。
影响因子：
9.8
作者：
Weeks,DE;Sobel,E;O'Connell,JR;Lange,K
通讯作者：
Lange,K
影响因子：
4.4
作者：
Winn, MP;Conlon, PJ;Vance, JM
通讯作者：
Vance, JM
影响因子：
9.8
作者：
Lenkkeri, U;Männikkö, M;Tryggvason, K
通讯作者：
Tryggvason, K
影响因子：
4.4
作者：
J. S. Zhang;M. Nelson;L. Wang;W. Liu;C. Qian;V. Shridhar;R. Urrutia;D. Smith
通讯作者：
J. S. Zhang;M. Nelson;L. Wang;W. Liu;C. Qian;V. Shridhar;R. Urrutia;D. Smith