Prospect of medical genetics in China from a historical point of view / 基础医学与临床

The history of Medical Genetics is briefly reviewed.It is evident that Medical Genetics with its inseparable part,clinical genetics,started out as a clinical science from the very beginning.Its robust development in the developed countries is the result of a close interaction between the basic sciences and clinical genetics service.In China,however,clinical genetics has not received due emphasis and medical genetics is still not recognized as one of the medical specialties.This is in marked contrast to the situation in the West.It is high time to acknowledge that medical genetics together with clinical genetics is a medical specialty and to promote clinical genetics service in qualified hospitals in our country.

Polymorphisms of Keratin 16 and 6A Genes in Two Chinese Families with Pachyonychia Congenita TypeⅠ / 中华皮肤科杂志

G (E165E) in exon 1 of KRT6A gene, were found in this patient. Conclusions A novel single nucleotide polymorphism of KRT16 gene which can result in the change of amino acid sequence is firstly reported and some known single nucleotide polymorphisms in KRT16 and KRT6A genes are also found in this study.