CAJ | 학술논문

目的观察一个罕见苗族Bardet-Biedl综合征家系的临床和生化特征,并保存其基因.方法将家系中3例患者与家系成员的临床和生化特征进行比较分析;采用环孢菌素A法将核心成员淋巴细胞进行转化,对原代和转化后的细胞进行染色体核型分析,建立永生化淋巴细胞系.结果此家系患者具备典型Bardet-Biedl综合征临床特征,体重、血压、空腹血糖和脂蛋白(a)水平显著高于家系成年成员(P＜0.05).转化前后细胞染色体核型一致,表明建立细胞株的方法稳定.结论此苗族Bardet-Biedl综合征家系患者主要特征方面并无不同,存在多项代谢异常;已成功建立此家系永生化B淋巴细胞系以保存此家系基因信息.
목적 관찰일개한견묘족Bardet-Biedl종합정가계적림상화생화특정,병보존기기인.방법 장가계중3례환자여가계성원적림상화생화특정진행비교분석;채용배포균소A법장핵심성원림파세포진행전화,대원대화전화후적세포진행염색체핵형분석,건립영생화림파세포계.결과 차가계환자구비전형Bardet-Biedl종합정림상특정,체중、혈압、공복혈당화지단백(a)수평현저고우가계성년성원(P＜0.05).전화전후세포염색체핵형일치,표명건립세포주적방법은정.결론 차묘족Bardet-Biedl종합정가계환자주요특정방면병무불동,존재다항대사이상;이성공건립차가계영생화B림파세포계이보존차가계기인신식.
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.