A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13

被引：81

作者：

Mathis, BJ

Kim, SH

Calabrese, K

Haas, M

Seidman, JG

Seidman, CE

Pollak, MR

机构：

[1] Oklahoma State Univ, Coll Osteopath Med, Dept Med, Tulsa, OK USA

[2] Univ Chicago, Sch Med, Dept Pathol, Chicago, IL 60637 USA

[3] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA

[4] Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA

[5] Brigham & Womens Hosp, Dept Med, Boston, MA 02115 USA

来源：

KIDNEY INTERNATIONAL | 1998年 / 53卷 / 02期

关键词：

genetics; focal segmental glomerulosclerosis; proteinuria; kidney;

D O I：

10.1046/j.1523-1755.1998.00828.x

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

We performed a genome-wide linkage analysis search for a genetic locus responsible for kidney dysfunction in a large family. This inherited condition, characterized by proteinuria, progressive renal insufficiency, and focal segmental glomerulosclerosis, follows autosomal dominant inheritance. We show with a high degree of certainty (maximum 2-point lod score 12.28) that the gene responsible for this condition is located on chromosome 19q13.

引用

页码：282 / 286

页数：5

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[11] AUTOSOMAL-DOMINANT HYPOCALCEMIA CAUSED BY A CA2+-SENSING RECEPTOR GENE MUTATION [J].