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Titolo:
Genetic basis of schizophrenia: Trinucleotide repeats - An update
Autore:
Vaswani, M; Kapur, S;
Indirizzi:
All India Inst Med Sci, Dept Psychiat, New Delhi 110029, India All India Inst Med Sci New Delhi India 110029 t, New Delhi 110029, India Deen Dayal Res Inst, JRD Tata Fdn Res Ayurveda & Allied Sci, Chitrakoot, MP, India Deen Dayal Res Inst Chitrakoot MP India llied Sci, Chitrakoot, MP, India
Titolo Testata:
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
fascicolo: 6, volume: 25, anno: 2001,
pagine: 1187 - 1201
SICI:
0278-5846(200108)25:6<1187:GBOSTR>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
BIPOLAR AFFECTIVE-DISORDER; CHILDHOOD-ONSET SCHIZOPHRENIA; POLYMORPHIC CAG REPEAT; POTASSIUM CHANNEL GENE; EXPANSION DETECTION; CHROMOSOME 1Q21; TRIPLET REPEAT; NO EVIDENCE; HKCA3 GENE; CAG/CTG REPEATS;
Keywords:
dynamic mutations; expanded repeats; schizophrenia; trinucleotide repeats;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
70
Recensione:
Indirizzi per estratti:
Indirizzo: Vaswani, M All India Inst Med Sci, Dept Psychiat, New Delhi 110029, India All India Inst Med Sci New Delhi India 110029 i 110029, India
Citazione:
M. Vaswani e S. Kapur, "Genetic basis of schizophrenia: Trinucleotide repeats - An update", PROG NEUR-P, 25(6), 2001, pp. 1187-1201

Abstract

1. Recent developments in technologies permit systematic screening of the entire human genome as a strategy for identification of susceptibility genes of small effect that influence risk to complex traits, like schizophrenia(Schz), inflammatory bowel disease, bipolar affective disorder (BPAD) etc.2. Schizophrenia is known to have a high heritability and a complex inheritance pattern. Several studies provide evidence that both genes acid environment play a role in the etiology of schizophrenia. Linkage studies have observed racial and sex bias in the genetic constitution of schizophrenia. Schizophrenia also manifests clinical anticipation and genomic imprinting.3. "Dynamic mutations" or "tandem repeat expansions" in DNA, explain a number of observations associated with clinical anticipation and genomic imprinting. In patient populations, the repeat expands well beyond the normal range, altering the biological function of the gene. These sequence are unstable and increase in size between family members in successive generations, giving rise to greater severity of disease.4. Several workers have reported an association of trinucleotide repeat length with adult- and child-onset schizophrenia. One such expanded allele has been found at the CTG18.1 locus on the 18th chromosome. Other genes knownto have similar mutation are SEF2-1, which codes for a helix-loop-helix protein, hSKCa3 gene, which codes for a calcium- activated potassium channel and the transthyretin gene. Ln schizophrenic patients, significant difference in allele frequency distribution of these genes has been reported.5. Population based genetic research would not only help identify different subgroups of this of schizophrenia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 07:27:39