메뉴 건너뛰기




Volumn 21, Issue 10, 2013, Pages 1120-1127

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes

Author keywords

CAG expansion; haplogroups; haplotypes; Huntington disease; prevalence; South Africa

Indexed keywords

HUNTINGTIN;

EID: 84884596055     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.2     Document Type: Article
Times cited : (51)

References (40)
  • 1
    • 33846225133 scopus 로고    scopus 로고
    • Huntington's disease
    • Walker FO: Huntington's disease. Lancet 2007; 369: 218-228
    • (2007) Lancet , vol.369 , pp. 218-228
    • Walker, F.O.1
  • 2
    • 0026684333 scopus 로고
    • The epidemiology of Huntington's disease
    • Harper PS: The epidemiology of Huntington's disease. Hum Genet 1992; 89: 365-376
    • (1992) Hum Genet , vol.89 , pp. 365-376
    • Harper, P.S.1
  • 3
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats
    • Kremer B, Goldberg P, Andrew SE et al: A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. New Engl J Med 1994; 330: 1401-1406
    • (1994) New Engl J Med , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, P.2    Andrew, S.E.3
  • 4
    • 0029130324 scopus 로고
    • Anticipation and instability of IT-I5 (CAG)N repeats in parent-offspring pairs with Huntington disease
    • Ranen NG, Stine OC, Abbott MH et al: Anticipation and instability of IT-I5 (CAG)N repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet 1995; 57: 593-602
    • (1995) Am J Hum Genet , vol.57 , pp. 593-602
    • Ranen, N.G.1    Stine, O.C.2    Abbott, M.H.3
  • 5
    • 25844438495 scopus 로고    scopus 로고
    • CE, Nichol EK, Cleary JD: Repeat instability: Mechanisms of dynamic mutations
    • Pearson
    • Pearson CE, Nichol EK, Cleary JD: Repeat instability: Mechanisms of dynamic mutations. Nat Rev Genet 2005; 6: 729-742
    • (2005) Nat Rev Genet , vol.6 , pp. 729-742
  • 6
    • 0027435939 scopus 로고
    • De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
    • Myers RH, MacDonald ME, Koroshetz WJ et al: De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat Genet 1993; 5: 168-173
    • (1993) Nat Genet , vol.5 , pp. 168-173
    • Myers, R.H.1    MacDonald, M.E.2    Koroshetz, W.J.3
  • 7
    • 0027359989 scopus 로고
    • Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
    • Goldberg YP, Kremer B, Andrew SE et al: Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects. Nat Genet 1993; 5: 174-179
    • (1993) Nat Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3
  • 8
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles
    • Semaka A, Creighton S, Warby S, Hayden MR: Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles. Clin Genet 2006; 70: 283-294
    • (2006) Clin Genet , vol.70 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3    Hayden, M.R.4
  • 9
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B et al: The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 1993; 4: 398-403
    • (1993) Nat Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3
  • 10
    • 12144288251 scopus 로고    scopus 로고
    • The US-Venezuela Collaborative Research Project and Wexler NS: Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset
    • Wexler NS, Lorimer J, Porter J et al: The US-Venezuela Collaborative Research Project and Wexler NS: Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc Natl Acad Sci 2004; 101: 3498-3503
    • (2004) Proc Natl Acad Sci , vol.101 , pp. 3498-3503
    • Wexler, N.S.1    Lorimer, J.2    Porter, J.3
  • 11
    • 0041385579 scopus 로고    scopus 로고
    • A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study
    • Li JL, Hayden MR, Almqvist EW et al: A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. Am J Hum Genet 2003; 73: 682-687
    • (2003) Am J Hum Genet , vol.73 , pp. 682-687
    • Li, J.L.1    Hayden, M.R.2    Almqvist, E.W.3
  • 12
    • 33749416817 scopus 로고    scopus 로고
    • Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: The HD MAPS study
    • Li J, Hayden MR, Warby SC et al: Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: The HD MAPS study. BMC Med Genet 2006; 7: 71
    • (2006) BMC Med Genet , vol.7 , pp. 71
    • Li, J.1    Hayden, M.R.2    Warby, S.C.3
  • 13
    • 48949118889 scopus 로고    scopus 로고
    • Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds
    • Gayán J, Brocklebank D, Andresen JM et al: Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. Genet Epidemiol 2008; 32: 445-453
    • (2008) Genet Epidemiol , vol.32 , pp. 445-453
    • Gayán, J.1    Brocklebank, D.2    Andresen, J.M.3
  • 14
    • 77951252744 scopus 로고    scopus 로고
    • Huntington's disease: The case for genetic modifiers
    • Gusella JF, MacDonald ME: Huntington's disease: The case for genetic modifiers. Genome Med 2009; 1: 80
    • (2009) Genome Med , vol.1 , pp. 80
    • Gusella, J.F.1    MacDonald, M.E.2
  • 15
    • 79955758366 scopus 로고    scopus 로고
    • HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
    • Warby SC, Visser H, Collins JA et al: HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet 2011; 19: 561-566
    • (2011) Eur J Hum Genet , vol.19 , pp. 561-566
    • Warby, S.C.1    Visser, H.2    Collins, J.A.3
  • 16
    • 61549104503 scopus 로고    scopus 로고
    • CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup
    • Warby SC, Montpetit A, Hayden AR et al: CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet 2009; 84: 351-366
    • (2009) Am J Hum Genet , vol.84 , pp. 351-366
    • Warby, S.C.1    Montpetit, A.2    Hayden, A.R.3
  • 17
    • 0018942442 scopus 로고
    • The prevalence of Huntington's chorea in South Africa
    • Hayden MR, MacGregor JM, Beighton PH: The prevalence of Huntington's chorea in South Africa. S Afr Med J 1980; 58: 193-196
    • (1980) S Afr Med J , vol.58 , pp. 193-196
    • Hayden, M.R.1    MacGregor, J.M.2    Beighton, P.H.3
  • 18
    • 0028177342 scopus 로고
    • A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
    • Andrew SE, Goldberg YP, Theilmann J, Zeisier J, Hayden MR: A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing. Hum Mol Genet 1994; 3: 65-67
    • (1994) Hum Mol Genet , vol.3 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisier, J.4    Hayden, M.R.5
  • 19
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989
    • (2001) Am J Hum Genet , vol.68 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 20
    • 0025223040 scopus 로고
    • Medical genetics in South Africa
    • Jenkins T: Medical genetics in South Africa. J Med Genet 1990; 27: 760-779
    • (1990) J Med Genet , vol.27 , pp. 760-779
    • Jenkins, T.1
  • 22
    • 0026070453 scopus 로고
    • Genetic linkage between Huntington disease and the D4S10 locus in South African families: Further evidence against non-allelic heterogeneity
    • Greenberg LJ, Martell RW, Theilmann J, Hayden MR, Joubert J: Genetic linkage between Huntington disease and the D4S10 locus in South African families: Further evidence against non-allelic heterogeneity. Hum Genet 1991; 87: 701-708
    • (1991) Hum Genet , vol.87 , pp. 701-708
    • Greenberg, L.J.1    Martell, R.W.2    Theilmann, J.3    Hayden, M.R.4    Joubert, J.5
  • 23
    • 0018956884 scopus 로고
    • The origin of Huntington's chorea in the Afrikaner population of South Africa
    • Hayden MR, Hopkins HC, Macrae M, Beighton PH: The origin of Huntington's chorea in the Afrikaner population of South Africa. S Afr Med J 1980; 58: 197-200
    • (1980) S Afr Med J , vol.58 , pp. 197-200
    • Hayden, M.R.1    Hopkins, H.C.2    Macrae, M.3    Beighton, P.H.4
  • 24
    • 34247637274 scopus 로고    scopus 로고
    • A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations
    • Scholefield J, Greenberg J: A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations. Eur J Hum Genet 2007; 15: 590-595
    • (2007) Eur J Hum Genet , vol.15 , pp. 590-595
    • Scholefield, J.1    Greenberg, J.2
  • 25
    • 0031829011 scopus 로고    scopus 로고
    • Huntington's disease confirmed by genetic testing in five African families
    • Silber E, Kromberg J, Temlett JA, Krause A, Saffer D: Huntington's disease confirmed by genetic testing in five African families. Mov Disord 1998; 13: 726-730
    • (1998) Mov Disord , vol.13 , pp. 726-730
    • Silber, E.1    Kromberg, J.2    Temlett, J.A.3    Krause, A.4    Saffer, D.5
  • 27
    • 58149235253 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease in a developing country
    • Futter MJ, Heckmann JM, Greenberg LJ: Predictive testing for Huntington disease in a developing country. Clin Genet 2009; 75: 92-97
    • (2009) Clin Genet , vol.75 , pp. 92-97
    • Futter, M.J.1    Heckmann, J.M.2    Greenberg, L.J.3
  • 28
    • 84856284592 scopus 로고    scopus 로고
    • The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for Huntington disease in Johannesburg, South Africa
    • Sizer EB, Haw T, Wessels T, Kromberg JGR, Krause A: The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for Huntington disease in Johannesburg, South Africa. Genet Test Mol Biomarkers 2011; 16: 1-6
    • (2011) Genet Test Mol Biomarkers , vol.16 , pp. 1-6
    • Sizer, E.B.1    Haw, T.2    Wessels, T.3    Kromberg, J.G.R.4    Krause, A.5
  • 29
    • 0027982426 scopus 로고
    • Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
    • Rubinzstein DC, Amos W, Leggo J et al: Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994; 7: 525-530
    • (1994) Nat Genet , vol.7 , pp. 525-530
    • Rubinzstein, D.C.1    Amos, W.2    Leggo, J.3
  • 30
    • 0035128291 scopus 로고    scopus 로고
    • Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases
    • Falush D, Almqvist EW, Brinkmann RR, Iwasa Y, Hayden MR: Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet 2000; 63: 373-385
    • (2000) Am J Hum Genet , vol.63 , pp. 373-385
    • Falush, D.1    Almqvist, E.W.2    Brinkmann, R.R.3    Iwasa, Y.4    Hayden, M.R.5
  • 31
    • 73949125607 scopus 로고    scopus 로고
    • Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles)
    • Semaka A, Collins JA, Hayden MR: Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles). Am J Med Genet 2010; 153B: 314-320
    • (2010) Am J Med Genet , vol.153 B , pp. 314-320
    • Semaka, A.1    Collins, J.A.2    Hayden, M.R.3
  • 32
    • 0027240431 scopus 로고
    • Trinucleotide repeat length instability and age of onset in Huntington's disease
    • Duyao M, Ambrose C, Myers R et al: Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993; 4: 387-392
    • (1993) Nat Genet , vol.4 , pp. 387-392
    • Duyao, M.1    Ambrose, C.2    Myers, R.3
  • 33
    • 78649262050 scopus 로고    scopus 로고
    • The clinical and genetic features of Huntington disease
    • Sturrock A, Leavitt BR: The clinical and genetic features of Huntington disease. J Geriatr Psychiatry Neurol 2010; 23: 243-259
    • (2010) J Geriatr Psychiatry Neurol , vol.23 , pp. 243-259
    • Sturrock, A.1    Leavitt, B.R.2
  • 34
    • 1842477303 scopus 로고    scopus 로고
    • An International Huntington's disease collaborative group: A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    • Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR: On behalf of an International Huntington's disease collaborative group: A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004; 65: 267-277
    • (2004) Clin Genet , vol.65 , pp. 267-277
    • Langbehn, D.R.1    Brinkman, R.R.2    Falush, D.3    Paulsen, J.S.4    Hayden, M.R.5
  • 35
    • 36348940966 scopus 로고    scopus 로고
    • Factors associated with HD CAG repeat instability in Huntington disease
    • Wheeler VC, Persichetti F, McNeil SM et al: Factors associated with HD CAG repeat instability in Huntington disease. J Med Genet 2007; 44: 695-701
    • (2007) J Med Genet , vol.44 , pp. 695-701
    • Wheeler, V.C.1    Persichetti, F.2    McNeil, S.M.3
  • 36
    • 71149111233 scopus 로고    scopus 로고
    • Haplotype background, repeat length evolution and Huntington disease
    • Falush D: Haplotype background, repeat length evolution and Huntington disease. Am J Hum Genet 2009; 85: 939-942.
    • (2009) Am J Hum Genet , vol.85 , pp. 939-942
    • Falush, D.1
  • 37
    • 0034780024 scopus 로고    scopus 로고
    • High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
    • Almqvist EW, Elterman DS, MacLeod PM, Hayden MR: High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 2001; 60: 198-205
    • (2001) Clin Genet , vol.60 , pp. 198-205
    • Almqvist, E.W.1    Elterman, D.S.2    MacLeod, P.M.3    Hayden, M.R.4
  • 38
    • 67349263503 scopus 로고    scopus 로고
    • A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference
    • Lombardi MS, Jaspers L, Spronkmans C et al: A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Exp Neurol 2009; 217: 312-319
    • (2009) Exp Neurol , vol.217 , pp. 312-319
    • Lombardi, M.S.1    Jaspers, L.2    Spronkmans, C.3
  • 39
    • 67349159137 scopus 로고    scopus 로고
    • Five siRNAs targeting three SNPs in Huntingtin may provide therapy for three-quarters of Huntington's disease patients
    • Pfister EL, Kennington L, Straubhaar J et al: Five siRNAs targeting three SNPs in Huntingtin may provide therapy for three-quarters of Huntington's disease patients. Curr Biol 2009; 19: 774-778
    • (2009) Curr Biol , vol.19 , pp. 774-778
    • Pfister, E.L.1    Kennington, L.2    Straubhaar, J.3
  • 40
    • 82955237522 scopus 로고    scopus 로고
    • Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allelespecific silencing of mutant huntingtin
    • Carroll JB, Warby SC, Southwell AL et al: Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allelespecific silencing of mutant huntingtin. Mol Ther 2011; 19: 2178-2185
    • (2011) Mol Ther , vol.19 , pp. 2178-2185
    • Carroll, J.B.1    Warby, S.C.2    Southwell, A.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.