Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31

被引：18

作者：

Vollmer, M

Jeck, N

Lemmink, HH

Vargas, R

Feldmann, D

Konrad, M

Beekmann, F

van den Heuvel, LPWJ

Deschenes, G

Guay-Woodford, LM

Antignac, C

Seyberth, HW

Hildebrandt, F

Knoers, NVAM

机构：

[1] Childrens Univ Hosp, Dept Pediat, Freiburg, Germany

[2] Childrens Univ Hosp, Dept Pediat, Marburg, Germany

[3] Univ Nijmegen Hosp, Dept Pediat & Human Genet, NL-6500 HB Nijmegen, Netherlands

[4] Univ Paris 05, Necker Hosp, INSERM, U423, Paris, France

[5] Armand Trousseau Hosp, Dept Biochem, Paris, France

[6] Armand Trousseau Hosp, Dept Pediat Nephrol, Paris, France

[7] Univ Alabama, Dept Med & Pediat, Birmingham, AL USA

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2000年 / 15卷 / 07期

关键词：

antenatal Bartter syndrome; chromosome; 1p31; deafness; haplotype analysis;

D O I：

10.1093/ndt/15.7.970

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

Background. Recently a locus for antenatal Bartter syndrome associated with sensorineural deafness was mapped to human chromosome 1p31 in a single consanguineous Bedouin family (Brennan ef al. Am J Hum Genet 1998; 62: 355-361). Methods, By haplotype analysis we demonstrate linkage to this locus in nine consanguineous families with antenatal Bartter syndrome associated with sensorineural deafness. Results. The critical interval compatible with linkage was refined to 4.0 cM by two novel recombinational events with markers D1S2661 and D1S475. Conclusion. We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.

引用

页码：970 / 974

页数：5

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