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Titolo:
Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India
Autore:
Pramanik, S; Basu, P; Gangopadhaya, PK; Sinha, KK; Jha, DK; Sinha, S; Das, SK; Maity, BK; Mukherjee, SC; Roychoudhuri, S; Majumder, PP; Bhattacharyya, NP;
Indirizzi:
Saha Inst Nucl Phys, Crystallog & Mol Biol Div, Calcutta 700064, W Bengal,India Saha Inst Nucl Phys Calcutta W Bengal India 700064 700064, W Bengal,India Bangur Inst Neurol, Calcutta, W Bengal, India Bangur Inst Neurol CalcuttaW Bengal India ol, Calcutta, W Bengal, India Adv Diagnost Ctr, Ranchi, Bihar, India Adv Diagnost Ctr Ranchi Bihar India v Diagnost Ctr, Ranchi, Bihar, India Calcutta Med Coll, Calcutta, W Bengal, India Calcutta Med Coll Calcutta WBengal India oll, Calcutta, W Bengal, India Indian Inst Chem Biol, Calcutta, W Bengal, India Indian Inst Chem Biol Calcutta W Bengal India Calcutta, W Bengal, India Indian Stat Inst, Calcutta, W Bengal, India Indian Stat Inst Calcutta W Bengal India Inst, Calcutta, W Bengal, India
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 9, volume: 8, anno: 2000,
pagine: 678 - 682
SICI:
1018-4813(200009)8:9<678:AOCACR>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOTONIC-DYSTROPHY; DISEASE; PREVALENCE; TRINUCLEOTIDE; EXPANSION; JAPANESE; AFRICA; DNA;
Keywords:
Huntington's disease; Indian populations; haplotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Bhattacharyya, NP Saha Inst Nucl Phys, Crystallog & Mol Biol Div, 1-AF Bidhan Nagar, Calcutta 700064, W Bengal, India Saha Inst Nucl Phys 1-AF BidhanNagar Calcutta W Bengal India 700064
Citazione:
S. Pramanik et al., "Analysis of CAG and CCG repeats in Huntingtin gene among HD patients and normal populations of India", EUR J HUM G, 8(9), 2000, pp. 678-682

Abstract

We have analysed the distribution of CAG and adjacent polymorphic CCC repeats in the Huntingtin gene in 28 clinically diagnosed unrelated Huntington's disease (HD) patients and in normal individuals belonging to different ethnic groups of India. The range of expanded CAG repeats in HD patients varied from 41 to 56 repeats, whereas in normal individuals this number varied between 11 and 31 repeats. We identified six CCC alleles from a total of 380 normal chromosomes that were pooled across different ethnic populations of India. There were two predominant alleles: (CCG)(7) (72.6%) and (CCC)(10)(20%). We report here for the first time one four-repeat CCC allele which has not been found in any population so far. We found 30 haplotypes (two loci CAG-CCG) for 380 normal chromosomes. In the present study, no statistically significant preponderance of expanded HD alleles was found on either (CCG)(7) or (CCG)(10) backgrounds. Our studies suggest that the overall prevalence of HD in Indian populations may not be as high as in Western populations. Further studies are necessary to identify the origin of HD mutation inthese populations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 15:59:22