Background:Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases. Objectives:To develop a rapid and simpl...Background:Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases. Objectives:To develop a rapid and simple reverse transcription-polymerase chain reaction (RT-PCR) strategy for mutation analysis of the WRN gene, to identify pathogenic mutations in a German patient with WS and to determine the effects of the pathogenic mutations on WRN mRNA stability. Methods:Allele-specific RT-PCR, semiquantitative RT-PCR, DNA sequencing. Results:We describe a novel and rapid RT-PCR-based method for mutation analysis in WS and report a German patient with WS carrying a previously reported (1396delA) as well as a novel nonsense mutation (2334delAC)of the WRN gene. By semiquantitative RT-PCR analysis we demonstrate that this compound heterozygous genotype leads to WRN transcript decay. Conclusions:In previous studies WS was primarily attributed to a loss of function of stable truncated WRN gene products. Our findings indicate that mutations can also lead to markedly decreased WRN transcript stability.展开更多
In this paper. a Kantorovitch- Ostrowski type convergence theorem and an error estimate of using the information of higher derivatives at the center between initial points for King-Werner iteration method in Banach ...In this paper. a Kantorovitch- Ostrowski type convergence theorem and an error estimate of using the information of higher derivatives at the center between initial points for King-Werner iteration method in Banach are established.展开更多
文摘Background:Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases. Objectives:To develop a rapid and simple reverse transcription-polymerase chain reaction (RT-PCR) strategy for mutation analysis of the WRN gene, to identify pathogenic mutations in a German patient with WS and to determine the effects of the pathogenic mutations on WRN mRNA stability. Methods:Allele-specific RT-PCR, semiquantitative RT-PCR, DNA sequencing. Results:We describe a novel and rapid RT-PCR-based method for mutation analysis in WS and report a German patient with WS carrying a previously reported (1396delA) as well as a novel nonsense mutation (2334delAC)of the WRN gene. By semiquantitative RT-PCR analysis we demonstrate that this compound heterozygous genotype leads to WRN transcript decay. Conclusions:In previous studies WS was primarily attributed to a loss of function of stable truncated WRN gene products. Our findings indicate that mutations can also lead to markedly decreased WRN transcript stability.
基金Partial Supported by the Natural Science Foundation of Zhejiang Province.
文摘In this paper. a Kantorovitch- Ostrowski type convergence theorem and an error estimate of using the information of higher derivatives at the center between initial points for King-Werner iteration method in Banach are established.
