Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q

被引：13

作者：

Fenske, CD

Jeffery, S

Weber, JL

Houlston, RS

Leonard, JV

Lee, PJ

机构：

[1] St George Hosp, Sch Med, Med Genet Unit, London SW17 0RE, England

[2] Marshfield Med Res Fdn, Marshfield, WI 54449 USA

[3] Inst Canc Res, Genet Sect, Sutton, Surrey, England

[4] Inst Child Hlth, Biochem Endocrine & Metab Unit, London WC1N 1EH, England

[5] St George Hosp, Sch Med, Dept Child Hlth, London SW17 0RE, England

来源：

JOURNAL OF MEDICAL GENETICS | 1998年 / 35卷 / 04期

关键词：

glycogen storage disease; neutropenia; phosphate transporter; homozygosity mapping;

D O I：

10.1136/jmg.35.4.269

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The microsomal glucose-6-phosphatase (G6Pase) complex regulates the final step in glucose production from glycogenolysis and gluconeogenesis. Glycogen storage disease type Ic (GSD-lc) results from deficient activity of the phosphate/pyrophosphate transporter of this complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia. Using three affected subjects from a single highly consanguineous family, we have used homozygosity mapping to localise the gene responsible for GSD-1c to a 10.2 cM region on 11q23.3-24.2. The maximum lod score was 3.12. GSD-1c is therefore distinct from GSD-la, which has been shown previously to be caused by mutations in the G6Pase gene on chromosome 17.

引用

页码：269 / 272

页数：4

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