ANALYSIS OF THE CTG REPEAT IN SKELETAL-MUSCLE OF YOUNG AND ADULT MYOTONIC-DYSTROPHY PATIENTS - WHEN DOES THE EXPANSION OCCUR

被引：103

作者：

ZATZ, M ^{[1
]}

PASSOSBUENO, MR ^{[1
]}

CERQUEIRA, A ^{[1
]}

MARIE, SK ^{[1
]}

VAINZOF, M ^{[1
]}

PAVANELLO, RCM ^{[1
]}

机构：

[1] UNIV SAO PAULO,FAC MED,DEPT NEUROL,BR-05508900 SAO PAULO,BRAZIL

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 03期

基金：

巴西圣保罗研究基金会;

关键词：

D O I：

10.1093/hmg/4.3.401

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The purpose of this investigation was to analyze the CTG expansion in muscle as compared to lymphocytes DNA in a sample of selected myotonic dystrophy (DM) patients of different ages and degrees of clinical severity, ranging from severe congenital to minimally affected. Results from the present study showed that the size of the CTG repeat was markedly larger in skeletal muscle than in lymphocytes in all DM patients. In contrast to lymphocytes, no significant correlation was found between the size of the CTG expansion in muscle and age at onset. In addition, large expansions were observed in muscle from all adult symptomatic patients independently of the presence of muscle weakness, which raises the question of the value of analyzing CTG expansions in muscle for predicting the severity of the phenotype. Differences between the size of the CTG expansions in muscle as compared to lymphocytes were smaller in affected children suggesting an apparent tendency to increase with aging and reaching a plateau in adulthood.

引用

页码：401 / 406

页数：6

共 27 条

[1]

ABELIOVICH D, 1993, AM J HUM GENET, V52, P1175

[2] LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTES FROM PATIENTS WITH MYOTONIC-DYSTROPHY [J].

ANVRET, M ;

AHLBERG, G ;

GRANDELL, U ;

HEDBERG, B ;

JOHNSON, K ;

EDSTROM, L .

HUMAN MOLECULAR GENETICS, 1993, 2 (09) :1397-1400

[3] SOMATIC INSTABILITY OF CTG REPEAT IN MYOTONIC-DYSTROPHY [J].

ASHIZAWA, T ;

DUBEL, JR ;

HARATI, Y .

NEUROLOGY, 1993, 43 (12) :2674-2678

[4]

ASHIZAWA T, 1994, AM J HUM GENET, V54, P414

[5]

ASHIZAWA T, 1992, NEUROLOGY, V42, P1877

[6] 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

[7] 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

[8]

BRUNNER HG, 1993, AM J HUM GENET, V53, P1016

[9] 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

[10] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY [J].

FU, YH ;

PIZZUTI, A ;

FENWICK, RG ;

KING, J ;

RAJNARAYAN, S ;

DUNNE, PW ;

DUBEL, J ;

NASSER, GA ;

ASHIZAWA, T ;

DEJONG, P ;

WIERINGA, B ;

KORNELUK, R ;

PERRYMAN, MB ;

EPSTEIN, HF ;

CASKEY, CT .

SCIENCE, 1992, 255 (5049) :1256-1258

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