A PCR METHOD FOR ACCURATE ASSESSMENT OF TRINUCLEOTIDE REPEAT EXPANSION IN HUNTINGTON DISEASE

被引:83
|
作者
GOLDBERG, YP [1 ]
ANDREW, SE [1 ]
CLARKE, LA [1 ]
HAYDEN, MR [1 ]
机构
[1] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER V6T 1Z4,BC,CANADA
关键词
D O I
10.1093/hmg/2.6.635
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
引用
收藏
页码:635 / 636
页数:2
相关论文
共 50 条
  • [41] DNA repair and somatic repeat expansion in Huntington's disease
    Leavitt, Blair R.
    Thompson, Leslie M.
    JOURNAL OF HUNTINGTONS DISEASE, 2021, 10 (01) : 1 - 1
  • [42] IMPROVING DIAGNOSIS OF HUNTINGTONS-DISEASE BY ANALYSIS OF AN INTRAGENIC TRINUCLEOTIDE REPEAT EXPANSION
    BEILBY, J
    CHIN, CY
    PORTER, I
    WALPOLE, IR
    GOLDBLATT, J
    MEDICAL JOURNAL OF AUSTRALIA, 1994, 161 (06) : 356 - 360
  • [43] RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE
    SNELL, RG
    MACMILLAN, JC
    CHEADLE, JP
    FENTON, I
    LAZAROU, LP
    DAVIES, P
    MACDONALD, ME
    GUSELLA, JF
    HARPER, PS
    SHAW, DJ
    NATURE GENETICS, 1993, 4 (04) : 393 - 397
  • [44] TRINUCLEOTIDE (CAG) REPEAT EXPANSION IN CHROMOSOMES OF SPANISH PATIENTS WITH HUNTINGTONS-DISEASE
    BENITEZ, J
    FERNANDEZ, E
    RUIZ, PG
    ROBLEDO, M
    RAMOS, C
    YEBENES, J
    HUMAN GENETICS, 1994, 94 (05) : 563 - 564
  • [45] IMPROVING DIAGNOSIS OF HUNTINGTONS-DISEASE BY ANALYSIS OF AN INTRAGENIC TRINUCLEOTIDE REPEAT EXPANSION
    FIRGAIRA, FA
    TURNER, DR
    HAAN, EA
    SUTHERS, GR
    MEDICAL JOURNAL OF AUSTRALIA, 1995, 162 (07) : 385 - 387
  • [46] A Novel Repeat-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats Including Pediatric Huntington Disease Associated Alleles
    De Luca, A.
    Consoli, F.
    Morella, A.
    Onori, A.
    Asdia, M. D.
    Fanelli, S.
    Alessio, B. D.
    Squitieri, F.
    NEUROTHERAPEUTICS, 2019, 16 (04) : 1381 - 1381
  • [47] A case of maternally transmitted juvenile Huntington's disease (HD) with a very large trinucleotide repeat
    Papapetropoulos, S
    Lopez-Alberola, R
    Baumbach, L
    Russell, A
    Gonzalez, MA
    Cinger, C
    MOVEMENT DISORDERS, 2005, 20 : S34 - S34
  • [48] Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder
    Ramos, Eliana Marisa
    Gillis, Tammy
    Mysore, Jayalakshmi S.
    Lee, Jong-Min
    Alonso, Isabel
    Gusella, James F.
    Smoller, Jordan W.
    Sklar, Pamela
    MacDonald, Marcy E.
    Perlis, Roy H.
    BIPOLAR DISORDERS, 2015, 17 (04) : 403 - 408
  • [49] EFFECT OF PARENTAL TRANSMISSION ON TRINUCLEOTIDE EXPANSION AND AGE AT ONSET OF SYMPTOMS IN JUVENILE HUNTINGTON DISEASE
    TELENIUS, H
    KREMER, B
    ADAM, S
    THEILMAN, J
    ANDREW, SE
    GOLDBERG, YP
    SQUITIERI, F
    STARR, E
    ALMQUIST, E
    ANVRET, M
    GREENBERG, J
    LUCOTTE, G
    HAYDEN, MR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 82 - 82
  • [50] FALSE NEGATIVES AND POSITIVES IN PREDICTIVE TESTING FOR HUNTINGTON DISEASE THE IMPORTANCE OF ACCURATE ASSESSMENT OF THE ADJACENT CCG REPEAT
    ALMQVIST, E
    GOLDBERG, YP
    HAYDEN, MR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 139 - 139