陕西省五地区异常血红蛋白的调查

• 作 者: 谭渭泉 周淑云 杨建中
• 机 构: 第四军医大学第一附属医院内二科,第四军医大学第一附属医院内二科,第四军医大学第一附属医院内二科
• 出 处: 第四军医大学学报
• 发表日期: 1984年02期
• 关键词: 家系调查 临床生化 家系 异常血红蛋白 遗传学分析 链分析 静脉血 不连续 河南籍 电泳

本文系采用pH8.5 B.B-pH9.0TEB不连续缓冲体系,以醋纤薄膜为载体,微量耳血电泳Hb。发现异常Hb者,抽取静脉血做HbA~2定量、抗硷变试验、异丙醇试验、肽链分析及家系调查等临床生化及遗传学分析。对陕西省五地区8.008人次的Hb进行了调查,发现了10个家系,两种异常Hb,其中陕西籍8个家系,江苏籍1个家系、河南籍1个家系、3例为HbJ组β肽链异常,7例为HbG或D组β肽链异常。经2—3代家系调查,发现有遗传规律,符合常染色体显性遗传。

In this paper, using pH8.5 B.B-pH9.0TEB discontinuous buffer system to vinegar film as a carrier, a small amount of ear blood electrophoresis Hb. Abnormal Hb were detected, venous blood was drawn for HbA ~ 2 quantification, anti-alkaline change test, isopropanol test, peptide analysis and pedigree investigation and other clinical biochemical and genetic analysis. Hb from 8.008 people in five areas of Shaanxi Province were investigated and 10 families and two abnormal Hbs were found, of which 8 were from Shaanxi, 1 from Jiangsu and 1 were from Henan, and 3 were from HbJ Abnormal chain, 7 cases of HbG or D group peptide chain abnormalities. After 2-3 generations of pedigree investigation, found that genetic law, in line with autosomal dominant.