PRENATAL PREDICTION OF SPINAL MUSCULAR-ATROPHY

被引：49

作者：

DANIELS, RJ

SUTHERS, GK

MORRISON, KE

THOMAS, NH

FRANCIS, MJ

MATHEW, CG

LOUGHLIN, S

HEIBERG, A

WOOD, D

DUBOWITZ, V

DAVIES, KE

机构：

[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC GENET GRP,OXFORD OX3 9DU,ENGLAND

[2] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,LONDON W12 0HS,ENGLAND

[3] GUYS HOSP,DIV MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND

[4] DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND

[5] ODYSSEY BIOMED CORP,NEW YORK,NY 10017

来源：

JOURNAL OF MEDICAL GENETICS | 1992年 / 29卷 / 03期

关键词：

D O I：

10.1136/jmg.29.3.165

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA112,D5S112)-D5S39-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.

引用

页码：165 / 170

页数：6

共 26 条

[1]

BARAITSER M, 1982, GENETICS NEUROLOGICA

[2]

BECKER PE, 1964, Z MENSCHL VERERB KON, V37, P193

[3]

BOUWSMA G, 1986, CLIN GENET, V30, P145

[4] GENETIC-MAPPING OF CHRONIC CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY TO CHROMOSOME-5Q11.2-13.3 [J].

BRZUSTOWICZ, LM ;

LEHNER, T ;

CASTILLA, LH ;

PENCHASZADEH, GK ;

WILHELMSEN, KC ;

DANIELS, R ;

DAVIES, KE ;

LEPPERT, M ;

ZITER, F ;

WOOD, D ;

DUBOWITZ, V ;

ZERRES, K ;

HAUSMANOWAPETRUSEWICZ, I ;

OTT, J ;

MUNSAT, TL ;

GILLIAM, TC .

NATURE, 1990, 344 (6266) :540-541

[5]

BUNDEY S, 1985, GENETICS NEUROLOGY

[6]

DANIELS RJ, IN PRESS GENOMICS

[7]

Dubowitz V, 1991, Neuromuscul Disord, V1, P77, DOI 10.1016/0960-8966(91)90051-S

[8]

Dubowitz V., 1978, MUSCLE DISORDERS CHI, P146

[9] GENETIC HOMOGENEITY BETWEEN ACUTE AND CHRONIC FORMS OF SPINAL MUSCULAR-ATROPHY [J].

GILLIAM, TC ;

BRZUSTOWICZ, LM ;

CASTILLA, LH ;

LEHNER, T ;

PENCHASZADEH, GK ;

DANIELS, RJ ;

BYTH, BC ;

KNOWLES, J ;

HISLOP, JE ;

SHAPIRA, Y ;

DUBOWITZ, V ;

MUNSAT, TL ;

OTT, J ;

DAVIES, KE .

NATURE, 1990, 345 (6278) :823-825

[10]

KAUSCH K, 1991, HUM GENET, V86, P317

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