Two novel single-base-pair substitutions adjacent to the CAG repeat in the Huntington disease gene (IT15): Implications for diagnostic testing [11]

American Journal of Human Genetics

Volumn 64, Issue 1, 1999, Pages 323-325

  Margolis, R L ^a   Stine, O C ^a   Callahan, C ^a   Rosenblatt, A ^a   Abbott, M H ^a   Sherr, M ^a   Ross, C A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; BASE PAIRING; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC TEST; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUNTINGTON CHOREA; LETTER; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033364310     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302209     Document Type: Letter

References (7)

1. American College of Medical Genetics/American Society of Human Genetics (ACMG/ASHG) Huntington Disease Genetic Testing Working Group Laboratory guidelines for Huntington disease genetic testing Am J Hum Genet 62 1998 1243 1247
2. SE Andrew YP Goldberg J Theilmann J Zeisler MR Hayden A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing Hum Mol Genet 3 1994 65 67
3. C Gellera C Meoni B Castellotti B Zappacosta F Girotti F Taroni S DiDonato Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene Am J Hum Genet 59 1996 475 477
4. YP Goldberg SE Andrew LA Clarke MR Hayden A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease Hum Mol Genet 2 1993 635 636
5. Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 1993 971 983
6. C Pecheux J-F Mouret A Durr Y Agid J Feingold A Brice C Dode Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes J Med Genet 32 1995 399 400
7. OC Stine N Pleasant ML Franz MH Abbott SE Folstein CA Ross Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15 Hum Mol Genet 2 1993 1547 1549