LARGER EXPANSIONS OF THE CTG REPEAT IN MUSCLE COMPARED TO LYMPHOCYTES FROM PATIENTS WITH MYOTONIC-DYSTROPHY

被引：165

作者：

ANVRET, M

AHLBERG, G

GRANDELL, U

HEDBERG, B

JOHNSON, K

EDSTROM, L

机构：

[1] KAROLINSKA HOSP,DEPT NEUROL,S-10401 STOCKHOLM 60,SWEDEN

[2] CHARING CROSS & WESTMINSTER MED SCH,DEPT ANAT,LONDON,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 09期

关键词：

D O I：

10.1093/hmg/2.9.1397

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 discovery that there is an expansion of a CTG repeat underlying myotonic dystrophy has led to new approaches in diagnosis and genetic counselling for this disorder. The size of the expansion correlates to a reasonable degree with the clinical symptoms within a given family. We report comparisons of the length of the expansion seen in lymphocytes and muscle samples from eight patients. In all cases the length of the expansion seen in DNA isolated from muscle was larger than that seen in lymphocytes from the same patient. There was no progression of the expansion over a period of 10 - 15 years in muscle samples from two of these patients even though there had been significant progression of the severity of symptoms during that time.

引用

页码：1397 / 1400

页数：4

共 25 条

[11]

HARPER PS, 1992, AM J HUM GENET, V51, P10

[12]

HENRIKSSON KG, 1979, ACTA NEUROL SCAND, V59, P317

[13] CHARACTERIZATION OF THE MYOTONIC-DYSTROPHY REGION PREDICTS MULTIPLE PROTEIN ISOFORM-ENCODING MESSENGER-RNAS [J].

JANSEN, G ;

MAHADEVAN, M ;

AMEMIYA, C ;

WORMSKAMP, N ;

SEGERS, B ;

HENDRIKS, W ;

OHOY, K ;

BAIRD, S ;

SABOURIN, L ;

LENNON, G ;

JAP, PL ;

ILES, D ;

COERWINKEL, M ;

HOFKER, M ;

CARRANO, AV ;

DEJONG, PJ ;

KORNELUK, RG ;

WIERINGA, B .

NATURE GENETICS, 1992, 1 (04) :261-266

[14] MEIOTIC STABILITY AND GENOTYPE-PHENOTYPE CORRELATION OF THE TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY [J].

LASPADA, AR ;

ROLING, DB ;

HARDING, AE ;

WARNER, CL ;

SPIEGEL, R ;

HAUSMANOWAPETRUSEWICZ, I ;

YEE, WC ;

FISCHBECK, KH .

NATURE GENETICS, 1992, 2 (04) :301-304

[15] DIFFERENT SEX-DEPENDENT CONSTRAINTS IN CTG LENGTH VARIATION AS EXPLANATION FOR CONGENITAL MYOTONIC-DYSTROPHY [J].

LAVEDAN, C ;

HOFMANNRADVANYI, H ;

RABES, JP ;

ROUME, J ;

JUNIEN, C .

LANCET, 1993, 341 (8839) :237-237

[16]

LAVEDAN C, 1993, AM J HUM GENET, V52, P875

[17] A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES [J].

MACDONALD, ME ;

AMBROSE, CM ;

DUYAO, MP ;

MYERS, RH ;

LIN, C ;

SRINIDHI, L ;

BARNES, G ;

TAYLOR, SA ;

JAMES, M ;

GROOT, N ;

MACFARLANE, H ;

JENKINS, B ;

ANDERSON, MA ;

WEXLER, NS ;

GUSELLA, JF ;

BATES, GP ;

BAXENDALE, S ;

HUMMERICH, H ;

KIRBY, S ;

NORTH, M ;

YOUNGMAN, S ;

MOTT, R ;

ZEHETNER, G ;

SEDLACEK, Z ;

POUSTKA, A ;

FRISCHAUF, AM ;

LEHRACH, H ;

BUCKLER, AJ ;

CHURCH, D ;

DOUCETTESTAMM, L ;

ODONOVAN, MC ;

RIBARAMIREZ, L ;

SHAH, M ;

STANTON, VP ;

STROBEL, SA ;

DRATHS, KM ;

WALES, JL ;

DERVAN, P ;

HOUSMAN, DE ;

ALTHERR, M ;

SHIANG, R ;

THOMPSON, L ;

FIELDER, T ;

WASMUTH, JJ ;

TAGLE, D ;

VALDES, J ;

ELMER, L ;

ALLARD, M ;

CASTILLA, L ;

SWAROOP, M .

CELL, 1993, 72 (06) :971-983

[18] MYOTONIC-DYSTROPHY MUTATION - AN UNSTABLE CTG REPEAT IN THE 3' UNTRANSLATED REGION OF THE GENE [J].

MAHADEVAN, M ;

TSILFIDIS, C ;

SABOURIN, L ;

SHUTLER, G ;

AMEMIYA, C ;

JANSEN, G ;

NEVILLE, C ;

NARANG, M ;

BARCELO, J ;

OHOY, K ;

LEBLOND, S ;

EARLEMACDONALD, J ;

DEJONG, PJ ;

WIERINGA, B ;

KORNELUK, RG .

SCIENCE, 1992, 255 (5049) :1253-1255

[19] STRUCTURE AND GENOMIC SEQUENCE OF THE MYOTONIC-DYSTROPHY (DM KINASE) GENE [J].

MAHADEVAN, MS ;

AMEMIYA, C ;

JANSEN, G ;

SABOURIN, L ;

BAIRD, S ;

NEVILLE, CE ;

WORMSKAMP, N ;

SEGERS, B ;

BATZER, M ;

LAMERDIN, J ;

DEJONG, P ;

WIERINGA, B ;

KORNELUK, RG .

HUMAN MOLECULAR GENETICS, 1993, 2 (03) :299-304

[20] EXPLANATION FOR EXCLUSIVE MATERNAL ORIGIN FOR CONGENITAL FORM OF MYOTONIC-DYSTROPHY [J].

MULLEY, JC ;

STAPLES, A ;

DONNELLY, A ;

GEDEON, AK ;

HECHT, BK ;

NICHOLSON, GA ;

HAAN, EA ;

SUTHERLAND, GR .

LANCET, 1993, 341 (8839) :236-237

← 1 2 3 →