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Titolo:
RECURRENCE OF OSTEOGENESIS IMPERFECTA BECAUSE OF PATERNAL MOSAICISM -GLY(862)-]SER SUBSTITUTION IN A TYPE-I COLLAGEN GENE (COL1A1)
Autore:
NAMIKAWA C; SUZUMORI K; FUKUSHIMA Y; SASAKI M; HATA A;
Indirizzi:
HOKKAIDO UNIV,SCH MED,DEPT PUBL HLTH,N15,W7 SAPPORO HOKKAIDO 060 JAPAN HOKKAIDO UNIV,SCH MED,DEPT PUBL HLTH SAPPORO HOKKAIDO 060 JAPAN NAGOYA CITY UNIV,SCH MED,DEPT BIOCHEM NAGOYA AICHI 467 JAPAN NAGOYA CITY UNIV,SCH MED,DEPT OBSTET & GYNECOL NAGOYA AICHI 467 JAPAN SAITAMA CHILDRENS MED CTR IWATSUKI SAITAMA 339 JAPAN
Titolo Testata:
Human genetics
fascicolo: 6, volume: 95, anno: 1995,
pagine: 666 - 670
SICI:
0340-6717(1995)95:6<666:ROOIBO>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLYCINE SUBSTITUTIONS; PARENTAL MOSAICISM; DOMINANT MUTATION; SOMATIC MOSAICISM; POINT MUTATION; TRIPLE HELIX; SERINE; PROCOLLAGEN; POSITION; COLIAI;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
C. Namikawa et al., "RECURRENCE OF OSTEOGENESIS IMPERFECTA BECAUSE OF PATERNAL MOSAICISM -GLY(862)-]SER SUBSTITUTION IN A TYPE-I COLLAGEN GENE (COL1A1)", Human genetics, 95(6), 1995, pp. 666-670

Abstract

We determined that two siblings with type III osteogenesis imperfecta(OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the al chain of the type I (alpha 1(I)) collagen gene (COL1A1). The mutation was also detected in various paternal tissues; the mutant allele accounted for approximately 11% of the COL1A1 alleles in blood, 24% of those in fibroblasts, and 43% of those in sperm determined by allele-specific colony hybridization using amplified genomic sequences. These findings demonstrate that germ-line mosaicism in the phenotypically normalfather is responsible for the recurrence. There is a cluster of serine substitutions for Gly (Gly(832), Gly(844) and Gly(901)) which is associated with nonlethal phenotypes and which is located between two lethal clusters. In the cases studied here, a Gly(862)-->Ser mutation wasidentified that is located inside the nonlethal cluster.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/01/21 alle ore 18:31:49