Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormon...Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.展开更多
青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY...青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY数十年前已被人们关注在应用胰岛素以前,展开更多
文摘Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.
文摘青少年的成人起病型糖尿病（Maturityonset diabetes of the youm,MODY）,已被证实为单基因遗传突变引起的糖尿病,其突变基因具有遗传异质性,属于一种非胰岛素依赖的早发型糖尿病,呈常染色体显性遗传,是单基因糖尿病中常见的一型。MODY数十年前已被人们关注在应用胰岛素以前,
