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Titolo:
DETECTION OF HETEROZYGOUS CARRIERS OF THE ATAXIA-TELANGIECTASIA (ATM)GENE BY G(2) PHASE CHROMOSOMAL RADIOSENSITIVITY OF PERIPHERAL-BLOOD LYMPHOCYTES
Autore:
TCHIRKOV A; BAY JO; PERNIN D; BIGNON YJ; RIO P; GRANCHO M; KWIATKOWSKI F; GIOLLANT M; MALET P; VERRELLE P;
Indirizzi:
FAC MED,LAB CYTOGENET MED,PL HENRI DUNANT,BP 38 F-63001 CLERMONT FERRA FRANCE CTR JEAN PERRIN,MOL ONCOL LAB,INSERM CRI 9402 CLERMONT FERRA FRANCE CTR JEAN PERRIN,SERV STAT & COMMUN MED CLERMONT FERRA FRANCE CTR JEAN PERRIN,DEPT RADIOTHERAPIE CLERMONT FERRA FRANCE CTR JEAN PERRIN,INSERM U71 CLERMONT FERRA FRANCE
Titolo Testata:
Human genetics
fascicolo: 3, volume: 101, anno: 1997,
pagine: 312 - 316
SICI:
0340-6717(1997)101:3<312:DOHCOT>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
G2-CHROMOSOMAL RADIOSENSITIVITY; CHROMATID DAMAGE; CANCER; FAMILIES; INDIVIDUALS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
A. Tchirkov et al., "DETECTION OF HETEROZYGOUS CARRIERS OF THE ATAXIA-TELANGIECTASIA (ATM)GENE BY G(2) PHASE CHROMOSOMAL RADIOSENSITIVITY OF PERIPHERAL-BLOOD LYMPHOCYTES", Human genetics, 101(3), 1997, pp. 312-316

Abstract

In ataxia-telangiectasia (A-T) patients, mutations in a single gene, ATM, result in an autosomal recessive syndrome that embraces a varietyof clinical features and manifests extreme radiosensitivity and a strong predisposition to malignancy. Heterozygotes for the ATM gene have no clinical expression of A-T but may be cancer prone with a moderate increase in in vitro radiosensitivity. We performed a blind chromosomal analysis on G(2)-phase lymphocytes from 7 unrelated A-T patients, 13obligate A-T heterozygotes (parents of the patients), and 14 normal controls following X-irradiation with 1 Gy in order to evaluate this cytogenetic method as a tool for detection of ATM carriers. Both A-T homozygotes and heterozygotes showed significantly increased levels of radiation-induced chromatid damage relative to that of normal controls. These results show that the G(2)-phase chromosomal radiosensitivity assay can be used for the detection of A-T heterozygotes. In combinationwith molecular genetic analyses, this test may be of value in studiesof familial and sporadic cancers aimed at determination of the potential involvement of ATM mutations in tumor risk or development.

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Documento generato il 02/12/20 alle ore 14:51:50