Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas ...Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas in the Shaanxi Province. Results ① Parents and siblings of index cases have a 3-4 times higher risk than a random unrelated individual. The odds ratio for disease is higher in mothers than in fathers of index cases; ② Prevalence in relatives of index cases (K r= 59.2% ) greatly exceeds population prevalence (K= 17.5% ); ③ K r increases with sibship size; ④ There is no significant difference of K r for male and female siblings of index cases. Also, population prevalence is not sex specific. Conclusion In conjunction with environmental agents, genetics may play an important role in KBD etiology.展开更多
Retinitis pigmentosa is a common ophthalmological monogenic-inheritance disease. It has been confirmed that the patterns of its inheritance are autosomal recessive, autosomal dominant and x-linked recessive inheritanc...Retinitis pigmentosa is a common ophthalmological monogenic-inheritance disease. It has been confirmed that the patterns of its inheritance are autosomal recessive, autosomal dominant and x-linked recessive inheritance. In May 1987, we found a family of 4 generations with altogether 21 family members. Among them, all the 8 males were retinitis pigmentosa patients, while none of the females showed any symptom of this disease and even their male offsprings were normal. Six years later, we made another follow-up investigation on this family and it was further confirmed that the mode of inheritance of the disease in this family was holandric.展开更多
Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pe...Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao展开更多
文摘Objective The occurrence characteristic of Kashin Beck Disease (KBD) in pedigrees ascertained on the basis of one proband was estimated. Methods A total of 255 individuals in 40 pedigrees were collected from areas in the Shaanxi Province. Results ① Parents and siblings of index cases have a 3-4 times higher risk than a random unrelated individual. The odds ratio for disease is higher in mothers than in fathers of index cases; ② Prevalence in relatives of index cases (K r= 59.2% ) greatly exceeds population prevalence (K= 17.5% ); ③ K r increases with sibship size; ④ There is no significant difference of K r for male and female siblings of index cases. Also, population prevalence is not sex specific. Conclusion In conjunction with environmental agents, genetics may play an important role in KBD etiology.
文摘Retinitis pigmentosa is a common ophthalmological monogenic-inheritance disease. It has been confirmed that the patterns of its inheritance are autosomal recessive, autosomal dominant and x-linked recessive inheritance. In May 1987, we found a family of 4 generations with altogether 21 family members. Among them, all the 8 males were retinitis pigmentosa patients, while none of the females showed any symptom of this disease and even their male offsprings were normal. Six years later, we made another follow-up investigation on this family and it was further confirmed that the mode of inheritance of the disease in this family was holandric.
文摘Objective To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy(HCM)focusing on the cardiac troponic C gene TNNC1 c.G175C mutation.Methods All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People’s Hospital of Qingdao
