Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

被引：37

作者：

Vargas, FR

Roessler, E

Gaudenz, K

Belloni, E

Whitehead, AS

Kirke, PN

Mills, JL

Hooper, G

Stevenson, RE

Cordeiro, I

Correia, P

Felix, T

Gereige, R

Cunningham, ML

Canún, S

Antonarakis, SE

Strachan, T

Tsui, LC

Scherer, SW

Muenke, M

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Human Genet & Mol Biol,Dept Pediat, Philadelphia, PA 19104 USA

[2] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Human Genet & Mol Biol,Dept Genet, Philadelphia, PA 19104 USA

[3] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada

[4] Trinity Coll, Dublin, Ireland

[5] FIOCRUZ, IFF, BR-21045900 Rio De Janeiro, Brazil

[6] Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil

[7] Univ S Florida, All Childrens Hosp, St Petersburg, FL 33701 USA

[8] Univ Washington, Seattle, WA 98195 USA

[9] Dr Manuel Gea Gonzalez Gen Hosp, Mexico City, DF, Mexico

[10] Hlth Res Board, Dublin, Ireland

[11] Geneva Med Sch, Geneva, Switzerland

[12] NICHHD, NIH, Bethesda, MD 20892 USA

[13] Univ Newcastle Upon Tyne, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[14] Princess Margaret Rose Orthopaed Hosp, Edinburgh EH10 7ED, Midlothian, Scotland

[15] Greenwood Genet Ctr, Greenwood, SC 29646 USA

[16] Hosp Santa Maria, Lisbon, Portugal

来源：

HUMAN GENETICS | 1998年 / 102卷 / 04期

关键词：

D O I：

10.1007/s004390050709

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be Linked to 7q36. We have also studied the SHH gene in five families with minor polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.

引用

页码：387 / 392

页数：6

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