THEORETICAL CONSIDERATIONS ON GERMLINE MOSAICISM IN DUCHENNE MUSCULAR-DYSTROPHY

被引:28
作者
GRIMM, T
MULLER, B
MULLER, CR
JANKA, M
机构
[1] Institut für Humangenetik, Universität Würzburg, D-8700 Würzburg
关键词
D O I
10.1136/jmg.27.11.683
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A newly formulated mutation selection equilibrium for lethal X linked recessive traits such as Duchenne muscular dystrophy is presented, which allows for both male and female germline mosaicism. Estimates of the additional parameters used are given, thus allowing the incorporation of germline mosaicism into the calculation of genetic risks.
引用
收藏
页码:683 / 687
页数:5
相关论文
共 37 条
[1]  
ALLANSON JE, 1986, CLIN GENET, V29, P429
[2]   GERMLINE MOSAICISM AND DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS [J].
BAKKER, E ;
VAN BROECKHOVEN, C ;
BONTEN, EJ ;
VANDEVOOREN, MJ ;
VEENEMA, H ;
VANHUL, W ;
VANOMMEN, GJB ;
VANDENBERGHE, A ;
PEARSON, PL .
NATURE, 1987, 329 (6139) :554-556
[3]   GERMINAL MOSAICISM INCREASES THE RECURRENCE RISK FOR NEW DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS [J].
BAKKER, E ;
VEENEMA, H ;
DENDUNNEN, JT ;
VAN BROECKHOVEN, C ;
GROOTSCHOLTEN, PM ;
BONTEN, EJ ;
VANOMMEN, GJB ;
PEARSON, PL .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (09) :553-559
[4]  
BARBUJANI G, 1990, HUM GENET, V84, P522
[5]  
BECH-HANSEN N T, 1987, American Journal of Human Genetics, V41, pA93
[6]  
BOWEN P, 1974, Birth Defects Original Article Series, V10, P31
[7]  
BRADLEY TB, 1980, JOHNS HOPKINS MED J, V146, P236
[8]   ALLOPURINOL (AP) INDUCED OROTIDINURIA (ODNU) - TEST OF HETEROZYGOSITY FOR ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY [J].
BRUSILOW, S ;
VALLE, D .
PEDIATRIC RESEARCH, 1987, 21 (04) :A289-A289
[9]  
BYERS PH, 1988, AM J HUM GENET, V42, P237
[10]  
Cavalli-Sforza LL, 1971, GENETICS HUMAN POPUL