EXCLUSION OF THE NEUROFIBROMATOSIS 1 LOCUS IN A FAMILY WITH INHERITED CAFE-AU-LAIT SPOTS

被引：20

作者：

BRUNNER, HG

HULSEBOS, T

STEIJLEN, PM

DERKINDEREN, DJ

VANDERSTEEN, A

HAMEL, BCJ

机构：

[1] UNIV AMSTERDAM, ACAD MED CTR, DEPT HUMAN GENET, 1105 AZ AMSTERDAM, NETHERLANDS

[2] REG HOSP, DEPT NEUROL, ZEVENAAR, NETHERLANDS

[3] UNIV HOSP NIJMEGEN, DEPT DERMATOL, 6500 HB NIJMEGEN, NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 04期

关键词：

NEUROFIBROMATOSIS; CAFE-AU-LAIT SPOTS; LINKAGE; NF-6;

D O I：

10.1002/ajmg.1320460428

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have performed linkage analysis in a small family with autosomal dominant inheritance of multiple cafe-au-lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF 1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited cafe-au-lait spots in this family.

引用

页码：472 / 474

页数：3

共 18 条

[1] A HIGHLY POLYMORPHIC CDNA PROBE IN THE NF1 GENE [J].

ANDERSEN, LB ;

WALLACE, MR ;

MARCHUK, DA ;

TAVAKKOL, R ;

MITCHELL, A ;

SAULINO, AM ;

COLLINS, FS .

NUCLEIC ACIDS RESEARCH, 1991, 19 (13) :3754-3754

[2] A POLYMORPHIC CDNA PROBE ON CHROMOSOME-17Q11.2 LOCATED WITHIN THE NF1 GENE [D17S376] [J].

ANDERSEN, LB ;

WALLACE, MR ;

MARCHUK, DA ;

CAWTHON, RM ;

ODEH, HM ;

LETCHER, R ;

WHITE, RL ;

COLLINS, FS .

NUCLEIC ACIDS RESEARCH, 1991, 19 (01) :197-197

[3]

BAHUAU M, 1991, AM J HUM GENET, V49, P126

[4] CAFE-AU-LAIT SPOTS IN SCHOOL-CHILDREN [J].

BURWELL, RG ;

JAMES, NJ ;

JOHNSTON, DI .

ARCHIVES OF DISEASE IN CHILDHOOD, 1982, 57 (08) :631-632

[5]

COLLEY P, 1991, Journal of Medical Genetics, V28, P572

[6] RING CHROMOSOME-11 AND CAFE-AU-LAIT SPOTS [J].

FAGAN, K ;

SUTHERS, GK ;

HARDACRE, G .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 30 (04) :911-916

[7]

FAIN PR, 1989, AM J HUM GENET, V45, P721

[8]

FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266

[9]

GOLDGAR DE, 1989, AM J HUM GENET, V44, P6

[10] PREVALENCE OF CONGENITAL-NEVUS-LIKE NEVI, NEVI SPILI, AND CAFE-AU-LAIT SPOTS [J].

KOPF, AW ;

LEVINE, LJ ;

RIGEL, DS ;

FRIEDMAN, RJ ;

LEVENSTEIN, M .

ARCHIVES OF DERMATOLOGY, 1985, 121 (06) :766-769

← 1 2 →