A 90 KB DNA DELETION ASSOCIATED WITH NEUROFIBROMATOSIS TYPE-1

被引：34

作者：

UPADHYAYA, M

CHERYSON, A

BROADHEAD, W

FRYER, A

SHAW, DJ

HUSON, S

WALLACE, MR

ANDERSEN, LB

MARCHUK, DA

VISKOCHIL, D

BLACK, D

OCONNELL, P

COLLINS, FS

HARPER, PS

机构：

[1] CHURCHILL HOSP, DEPT MED GENET, OXFORD OX3 7LJ, ENGLAND

[2] UNIV MICHIGAN, HOWARD HUGHES MED INST, ANN ARBOR, MI 48109 USA

[3] UNIV UTAH, HOWARD HUGHES MED INST, SALT LAKE CITY, UT 84112 USA

[4] UNIV UTAH, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA

[5] IMPERIAL CANC RES FUND, LONDON WC2A 3PX, ENGLAND

[6] UNIV MICHIGAN, DEPT INTERNAL MED, ANN ARBOR, MI 48109 USA

[7] UNIV MICHIGAN, DEPT HUMAN GENET, ANN ARBOR, MI 48109 USA

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 12期

关键词：

D O I：

10.1136/jmg.27.12.738

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.

引用

页码：738 / 741

页数：4

共 20 条

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