title: A novel splice acceptor site mutation of protein S gene in affected individuals with type I protein S deficiency: allelic exclusion of the mutant gene.
abstract: Sequencing studies of the protein S gene (PROS1) in a Japanese patient suffering from recurrent thrombosis revealed the following. The proband and his first daughter, but not the second daughter, were having the type I protein S (PS) deficiency due to a novel point mutation from A to G at the intronic acceptor splice site in intron 13 of the PROS1. In the affected daughter, exclusion of the aberrant allele was assessed by the BstX1 dimorphism of PROS1 at Pro626 (CCG/CCA). The reduced PS activities in the proband and his first daughter were apparently due to defective production of mRNA from the mutant allele.
authors: Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka 812-8582, Japan.
authors: M
authors: M
authors: Nakahara
authors: H
authors: H
authors: Iida
authors: M
authors: M
authors: Urata
authors: M
authors: M
authors: Fujise
authors: M
authors: M
authors: Wakiyama
authors: S
authors: S
authors: Kinoshita
authors: H
authors: H
authors: Tsuda
authors: T
authors: T
authors: Okamura
authors: K
authors: K
authors: Yao
authors: T
authors: T
authors: Yao
authors: N
authors: N
authors: Hamasaki
mesh_terms: D000483:Alleles; D017398:Alternative Splicing; D044466:Asian People; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D008642:Mesenteric Veins; D008875:Middle Aged; D009679:Nuclear Family; D012150:Polymorphism, Restriction Fragment Length; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012727:Sex Characteristics; D014158:Transcription, Genetic; D020246:Venous Thrombosis / Q000097:blood / Q000235:genetics*
chemical_list: D017293:Protein S; D012333:RNA, Messenger