IS SKEWED X-INACTIVATION RESPONSIBLE FOR SYMPTOMS IN FEMALE CARRIERS FOR ADRENOLEUKODYSTROPHY

被引:30
作者
WATKISS, E [1 ]
WEBB, T [1 ]
BUNDEY, S [1 ]
机构
[1] UNIV BIRMINGHAM,BIRMINGHAM MATERN HOSP,SUB DEPT CLIN GENET,BIRMINGHAM B15 2TG,ENGLAND
关键词
D O I
10.1136/jmg.30.8.651
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.
引用
收藏
页码:651 / 654
页数:4
相关论文
共 22 条
[1]   METHYLATION PATTERNS AT THE HYPERVARIABLE X-CHROMOSOME LOCUS DXS255 (M27-BETA) - CORRELATION WITH X-INACTIVATION STATUS [J].
BOYD, Y ;
FRASER, NJ .
GENOMICS, 1990, 7 (02) :182-187
[2]  
BROADHEAD DM, 1986, CLIN GENET, V30, P392
[3]  
CLARKE JTR, 1991, AM J HUM GENET, V49, P289
[4]   ADRENOLEUKODYSTROPHY - A MOLECULAR GENETIC-STUDY IN 5 FAMILIES [J].
DELMASTRO, RG ;
BUNDEY, S ;
KILPATRICK, MW .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (11) :670-675
[5]  
DESTBASILE G, 1992, HUM GENET, V89, P223
[6]   CARRIER DETECTION IN X-LINKED AGAMMAGLOBULINEMIA BY ANALYSIS OF X-CHROMOSOME INACTIVATION [J].
FEARON, ER ;
WINKELSTEIN, JA ;
CIVIN, CI ;
PARDOLL, DM ;
VOGELSTEIN, B .
NEW ENGLAND JOURNAL OF MEDICINE, 1987, 316 (08) :427-431
[7]   PRIMORDIAL CELL POOL SIZE AND LINEAGE RELATIONSHIPS OF 5 HUMAN CELL TYPES [J].
FIALKOW, PJ .
ANNALS OF HUMAN GENETICS, 1973, 37 (JUL) :39-48
[8]   ISOLATION AND CHARACTERIZATION OF A HUMAN VARIABLE COPY NUMBER TANDEM REPEAT AT XCEN-P11.22 [J].
FRASER, NJ ;
BOYD, Y ;
CRAIG, I .
GENOMICS, 1989, 5 (01) :144-148
[9]   GONADAL MOSAICISM IN A FAMILY WITH ADRENOLEUKODYSTROPHY - MOLECULAR DIAGNOSIS OF CARRIER STATUS AMONG DAUGHTERS OF A GONADAL MOSAIC WHEN DIRECT DETECTION OF THE MUTATION IS NOT POSSIBLE [J].
GRAHAM, GE ;
MACLEOD, PM ;
LILLICRAP, DP ;
BRIDGE, PJ .
JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (01) :68-74
[10]   CHROMOSOME-X INACTIVATION IN THE WISKOTT-ALDRICH SYNDROME - A MARKER FOR DETECTION OF THE CARRIER STATE AND IDENTIFICATION OF CELL LINEAGES EXPRESSING THE GENE DEFECT [J].
GREER, WL ;
KWONG, PC ;
PEACOCKE, M ;
IP, P ;
RUBIN, LA ;
SIMINOVITCH, KA .
GENOMICS, 1989, 4 (01) :60-67