A COMPLEX BILATERAL POLYSYNDACTYLY DISEASE LOCUS MAPS TO CHROMOSOME 7Q36

被引：84

作者：

TSUKUROV, O

BOEHMER, A

FLYNN, J

NICOLAI, JP

HAMEL, BCJ

TRAILL, S

ZALESKE, D

MANKIN, HJ

YEON, H

HO, C

TABIN, C

SEIDMAN, JG

SEIDMAN, C

机构：

[1] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115

[2] HARVARD UNIV,SCH MED,HOWARD HUGHES MED INST,BOSTON,MA 02115

[3] MASSACHUSETTS GEN HOSP,PEDIAT ORTHOPED UNIT,BOSTON,MA

[4] MASSACHUSETTS GEN HOSP,DEPT ORTHOPED,BOSTON,MA 02114

[5] ERASMUS UNIV ROTTERDAM,DEPT ENDOCRINOL & REPROD,3000 DR ROTTERDAM,NETHERLANDS

[6] CHILDRENS HOSP,DEPT PEDIAT,ROTTERDAM,NETHERLANDS

[7] REG CTR PLAST RECONSTRUCT & HAND SURG,ARNHEM,NETHERLANDS

[8] UNIV HOSP NIJMEGEN,DEPT HUMAN GENET,6500 HB NIJMEGEN,NETHERLANDS

[9] BRIGHAM & WOMENS HOSP,DEPT MED,BOSTON,MA 02115

来源：

NATURE GENETICS | 1994年 / 6卷 / 03期

关键词：

D O I：

10.1038/ng0394-282

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre- and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 (maximum lod score = 6.85, theta = 0). This region is homologous to a segment of mouse chromosome 5, where the mutations hammer toe (HM) and hemimelic extra toes (HX) have been mapped. These data suggest that human chromosome 7q36 and the homologous region of mouse chromosome 5 contain genes involved in limb pattern formation.

引用

页码：282 / 286

页数：5

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