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Titolo:
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome
Autore:
Chavez, B; Mendez, JP; Ulloa-Aguirre, A; Larrea, F; Vilchis, F;
Indirizzi:
Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Reprod Biol, Mexico City 14000, DF, Mexico Inst Nacl Ciencias Med & Nutr Salvador Zubiran Mexico City DF Mexico 14000 Hosp Pediat, IMSS, Med Res Unit Dev Biol, Mexico City, DF, Mexico Hosp Pediat Mexico City DF Mexico Unit Dev Biol, Mexico City, DF, Mexico
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 10, volume: 46, anno: 2001,
pagine: 560 - 565
SICI:
1434-5161(2001)46:10<560:ENMOTA>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROSTATE-CANCER; BINDING DOMAIN; POINT MUTATION; DNA-BINDING; IDENTIFICATION; REQUIREMENT; MODULATION; FEATURES;
Keywords:
steroid receptors; male pseudohermaphroditism; splice-junction mutation; silent mutation; ambiguous genitalia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Vilchis, F Inst Nacl Ciencias Med & Nutr Salvador Zubiran, Dept Reprod Biol, Vasco Quiroga 15,Tlalpan, Mexico City 14000, DF, Mexico Inst Nacl Ciencias Med & Nutr Salvador Zubiran Vasco Quiroga 15,Tlalpan Mexico City DF Mexico 14000
Citazione:
B. Chavez et al., "Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome", J HUM GENET, 46(10), 2001, pp. 560-565

Abstract

Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. A reliable genotype-phenotype correlation in these patients does not exist as yet. Here we report the molecular studies performed on eight individuals with AIS. Exon-specific polymerase chain reaction (PCR), single-strand conformation polymorphism, and sequencing analyses, were performed in exons 2 to 8 of the AR gene. In one case, total cellular RNA was extracted from genital skin fibroblasts and reverse transcriptase-PCR was performed. Six different point mutations leading to amino acid substitutions (P682T, Q711E, G743E, F827V, H874R, D879Y), one splice-junction mutation (g -->c at 5, exon 6/intron 6), and a missense mutation without amino acid substitution (S888S) were identified. All mutations, including a de novo mutation, were previously undescribed on the steroid binding domain. Of the eight mutations identified, four led to a complete female phenotype (codons 743. 827, 874 and the donor splice site +5), two were detected in phenotypic females with partial virilization (codons 682 and 711), and two were present in phenotypic male subjects with undervirilized external genitalia, thus indicating that all of these sites determine AR functional activity.

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Documento generato il 04/04/20 alle ore 08:03:51