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Titolo:
X chromosome inactivation patterns in 45,X/46,XX mosaics
Autore:
Uehara, S; Sato, K; Hashiyada, M; Obara, Y; Matsuzaki, S; Nata, M; Okamura, K;
Indirizzi:
Tohoku Univ, Sch Med, Dept Obstet & Gynecol, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Forens Med, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 ed, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Med, Dept Lab Med, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 ed, Sendai, Miyagi 9808574, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 46, anno: 2001,
pagine: 126 - 131
SICI:
1434-5161(2001)46:3<126:XCIPI4>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECURRENT SPONTANEOUS-ABORTION; METHYLATION-SPECIFIC PCR; TURNER-SYNDROME; RETT-SYNDROME; GENE; AGE; INHERITANCE; ANEUPLOIDY; SELECTION; FREQUENCY;
Keywords:
androgen receptor gene; nonrandom X chromosome inactivation phosphoglycerate kinase gene; postzygotic loss of X chromosome; structurally aberrant X chromosome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Uehara, S Tohoku Univ, Sch Med, Dept Obstet & Gynecol, Aoba Ku, 1-1 Seiryo-machi, Sendai, Miyagi 9808574, Japan Tohoku Univ 1-1 Seiryo-machi Sendai Miyagi Japan 9808574 , Japan
Citazione:
S. Uehara et al., "X chromosome inactivation patterns in 45,X/46,XX mosaics", J HUM GENET, 46(3), 2001, pp. 126-131

Abstract

To investigate X chromosome inactivation (XCI) patterns in 45,X/46,XX mosaics, genomic DNA was extracted from peripheral blood samples of 15 female subjects who showed different proportions of 45,X cell clones. XCI patterns were analyzed using two assays. The first assay was the BstXI restriction endonuclease detection of an X-linked phosphoglycerate kinase (PGK) gene polymorphism following digestion of the DNA with methylation-sensitive HpaII, or with methylation-insensitive AfaI as a control. The second assay was thedetection of a CAG triplet repeat polymorphism in the X-linked androgen receptor (AR) gene after sodium bisulfite treatment. Of the 15 subjects, 11 were informative due to heterozygosity for at least one of the polymorphisms(6 were heterozygous for the PGK polymorphism and 9 were heterozygous for the AR polymorphism). Four of the 11 informative subjects (36%) showed extremely skewed XCI for at least one of the polymorphisms, which was a much higher incidence than previously reported for normal females. Moreover, 3 of these 4 women had proportions of 45,X cell clones greater than 20%. Although our results may be due to several possible cytogenetic or molecular mechanisms, the most likely explanation is that cases of 45,X/46,XX that containrelatively high levels of 45,X cell clones probably arose due to structural aberrations of the X chromosome undetectable by conventional karyotyping.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/20 alle ore 12:22:42