ANTICIPATION IN MYOTONIC-DYSTROPHY - A PARENTAL-SEX-RELATED PHENOMENON

被引：9

作者：

DEMUNAIN, AL

BLANCO, A

EMPARANZA, JI

MASSO, JFM

COBO, A

BASAURI, B

MARTORELL, L

BAIGET, M

LAGE, JMM

机构：

[1] HOSP NTRA SRA DE ARANZAZU,DEPT OPHTHALMOL,SAN SEBASTIAN,SPAIN

[2] HOSP NTRA SRA DE ARANZAZU,DEPT CLIN EPIDEMIOL,SAN SEBASTIAN,SPAIN

[3] HOSP SANTA CRUZ & SAN PABLO,MOLEC GENET UNIT,E-08025 BARCELONA,SPAIN

[4] CLIN UNIV NAVARRA,FAC MED,DEPT NEUROL & NEUROSURG,PAMPLONA,SPAIN

来源：

NEUROEPIDEMIOLOGY | 1994年 / 13卷 / 1-2期

关键词：

MYOTONIC DYSTROPHY; ANTICIPATION; SEX-RELATED GENETIC EFFECT;

D O I：

10.1159/000110362

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

We report anticipation in an extensive sample of myotonic dystrophy (MyD) kindreds taken from an epidemiological survey recently conducted in Guipuzcoa, Spain. Analysis of the parent-child pairs ascertained showed a mean anticipation of 2.86 decades (range 0-6). Greater anticipation occurred when the transmissor parent was the mother. These results suggest a possible sex-related effect in the transmission of the MyD gene, and are in agreement with recent discoveries at the molecular level.

引用

页码：75 / 78

页数：4

共 16 条

[1]

ASHIZAWA T, 1992, NEUROLOGY, V42, P1871

[2]

ASHIZAWA T, 1992, NEUROLOGY, V42, P1877

[3] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT [J].

ASLANIDIS, C ;

JANSEN, G ;

AMEMIYA, C ;

SHUTLER, G ;

MAHADEVAN, M ;

TSILFIDIS, C ;

CHEN, C ;

ALLEMAN, J ;

WORMSKAMP, NGM ;

VOOIJS, M ;

BUXTON, J ;

JOHNSON, K ;

SMEETS, HJM ;

LENNON, GG ;

CARRANO, AV ;

KORNELUK, RG ;

WIERINGA, B ;

DEJONG, PJ .

NATURE, 1992, 355 (6360) :548-551

[4] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

BROOK, JD ;

MCCURRACH, ME ;

HARLEY, HG ;

BUCKLER, AJ ;

CHURCH, D ;

ABURATANI, H ;

HUNTER, K ;

STANTON, VP ;

THIRION, JP ;

HUDSON, T ;

SOHN, R ;

ZEMELMAN, B ;

SNELL, RG ;

RUNDLE, SA ;

CROW, S ;

DAVIES, J ;

SHELBOURNE, P ;

BUXTON, J ;

JONES, C ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

[5] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY [J].

BUXTON, J ;

SHELBOURNE, P ;

DAVIES, J ;

JONES, C ;

VANTONGEREN, T ;

ASLANIDIS, C ;

DEJONG, P ;

JANSEN, G ;

ANVRET, M ;

RILEY, B ;

WILLIAMSON, R ;

JOHNSON, K .

NATURE, 1992, 355 (6360) :547-548

[6] SEX-RELATED DIFFERENCE IN INTERGENERATIONAL EXPANSION OF MYOTONIC-DYSTROPHY GENE [J].

COBO, AM ;

BAIGET, M ;

DEMUNAIN, AL ;

POZA, JJ ;

EMPARANZA, JI ;

JOHNSON, K .

LANCET, 1993, 341 (8853) :1159-1160

[7] PREVALENCE OF MYOTONIC-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN) [J].

DEMUNAIN, AL ;

BLANCO, A ;

EMPARANZA, JI ;

POZA, JJ ;

MASSO, JFM ;

COBO, A ;

MARTORELL, L ;

BAIGET, M ;

LAGE, JMM .

NEUROLOGY, 1993, 43 (08) :1573-1576

[8]

Fleiseher B., 1918, ALBRECHT GRAEFES ARC, V96, P91, DOI DOI 10.1007/BF02018704

[9] CRITERIA FOR ESTABLISHING THE VALIDITY OF GENETIC-RECOMBINATION IN MYOTONIC-DYSTROPHY [J].

GRIGGS, RC ;

WOOD, DS .

NEUROLOGY, 1989, 39 (03) :420-421

[10] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY [J].

HARLEY, HG ;

BROOK, JD ;

RUNDLE, SA ;

CROW, S ;

REARDON, W ;

BUCKLER, AJ ;

HARPER, PS ;

HOUSMAN, DE ;

SHAW, DJ .

NATURE, 1992, 355 (6360) :545-546

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