A Miao pedigree of Bardet-Biedl syndrome in Yunnan province and their gene reservation / 中华内分泌代谢杂志

ABSTRACT

Objective To observe the features of a rare Miao pedigree of Bardet-Biedl syndrome in Yunnan province and to reserve its gene. Methods Three patients of this pedigree were reported. Their clinical and biochemical features were compared with those of the other pedigree members. Lymphocytes from main members of this pedigree were collected and transformed with cyclosporine A methods. Immortalized B lymphocyte strains were checked by means of chromosome karyotype analysis. Results Patients of this pedigree demonstrated typical clinical characteristics of this syndrome with increased body weight, blood pressure, fasting glucose, and lipoprotein(a)as compared with the other pedigree members(P＜0. 05). The chromosome karyotype of the lymphocytes before and after transformation was kept consistent. Conclusions Patients of this Miao pedigree showed typical clinical characteristics of this syndrome as well as abnormal metabolic features. Immortalized B lymphocyte strains with their genetic information were set successfully.