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Molecular basis of von Hippel-Lindau syndrome in Chinese patients 被引量:6
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作者 SIU Wai-kwan MA Ronald Ching-wan +12 位作者 LAM Ching-wan MAK Chloe Miu YUEN Yuet-ping lo fai-man ivan CHAN Kin-wan LAM Siu-fung LING Siu-cheung TONG Sui-fan SO Wing-yee CHOW Chun-chung TANG Mary Hoi-yin TAM wing-hung CHAN Albert Yan-wo 《Chinese Medical Journal》 SCIE CAS CSCD 2011年第2期237-241,共5页
Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs.The genetic basis of VHL in Southern Chinese ... Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs.The genetic basis of VHL in Southern Chinese is largely unknown.In this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.Methods Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this study.Prenatal diagnosis was performed twice for one proband.Two probands had only isolated bilateral phaeochromocytoma.The VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification (MLPA).Results The nine probands and the two symptomatic family members carried heterozygous germline mutations.Eight different VHL mutations were identified in the nine probands.One splicing mutation,NM_000551.2:c.463+1G〉T,was novel.The other seven VHL mutations,c.233A〉G [p.Asn78Ser],c.239G〉T [p.Ser80lle],c.319C〉G [p.Arg107Gly],c.481C〉T [p.Arg161X],c.482G〉A [p.Arg161GIn],c.499C〉T [p.Arg167Trp] and an exon 2 deletion,had been previously reported.Three asymptomatic family members were positive for the mutation and the other five tested negative.In prenatal diagnosis,the fetuses were positive for the mutation.Conclusions Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma.Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis.DNA-based diagnosis can have an important impact on clinical management for VHL families. 展开更多
关键词 von Hippel-Lindau syndrome VHL gene CHINESE VHL mutations
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THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME 被引量:3
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作者 OR SIU-FONG JUNE TONG MING-FOR TONY +1 位作者 lo fai-man ivan LAM TAK-SUM STEPHEN 《Chinese Medical Journal》 SCIE CAS CSCD 2006年第1期49-52,共4页
Blepharophimosis-ptosis-epicanthus inversus Psyndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only ... Blepharophimosis-ptosis-epicanthus inversus Psyndrome (BPES, OMIM # 110100) is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only the eyelid abnormalities are present, it is type Ⅱ. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently, 展开更多
关键词 blepharophimosis-ptosis-epicanthus inversussyndrome FOXL2 gene mutation multiplex ligation-dependent probe amplification
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