中间型β珠蛋白生成障碍性贫血患者及其父母中医证候家系调查  

A family survey of syndromes of traditional Chinese medicine in patients with β-thalassemia

作　　者：王文娟[1,2] 吴志奎[1] 张新华[3] 刘文军[1] 刘咏梅[1] 方素萍[1] 王荣新[3] 张冲[1] 李平萍[3] 罗瑞贵[3] 

机构地区：[1]中国中医科学院广安门医院分子生物学研究室,北京100053 [2]首都医科大学中医药学院中医系,北京100069 [3]中国人民解放军第303医院血液科,广西南宁530021

出　　处：《中西医结合学报》2009年第2期116-120,共5页Journal of Chinese Integrative Medicine

基　　金：国家自然科学基金资助项目(No.30171199);国家自然科学基金重大研究计划资助项目(No.90409003)

摘　　要：目的:研究中间型β珠蛋白生成障碍性贫血患者的中医证候与遗传背景的关系。方法:调查中间型β珠蛋白生成障碍性贫血患者(78例)及其父母(120例)的中医证候类型,检测各家系成员的基因突变类型。根据基因突变型对各家系的遗传特点进行归类,分别分析不同家系类型的子代与亲代在中医证候出现频率和中医证候积分方面的差异。结果:根据各家系的遗传特点可将所调查的全部73个家系归为两类。家系类型1的遗传特点是亲代中一人的基因型正常,子代的基因型与亲代中另一人完全相同,均为杂合子。在这22个家系中,杂合子子代出现频率较高的症状体征有6项:自汗、口干咽燥、面色淡白或萎黄、潮热盗汗、倦怠乏力、爪甲色淡;杂合子亲代出现频率较高的症状体征有5项:腰膝酸软、头晕目眩、畏寒肢冷、耳鸣、口干咽燥;正常亲代出现频率较高的症状体征有3项:腰膝酸软、头晕目眩、自汗。杂合子子代中医证候积分高于杂合子亲代及正常亲代,但差异无统计学意义(P>0.05)。家系类型2的遗传特点是亲代均为杂合子,子代为亲代基因突变型的双重组合。在这51个家系中,子代出现频率较高的症状体征有9项:面色淡白或萎黄、自汗、口干咽燥、爪甲色淡、潮热盗汗、倦怠乏力、易感冒、手足心热、身目发黄;亲代出现频率较高的症状体征有3项:腰膝酸软、畏寒肢冷、头晕目眩;子代中医证候积分明显高于亲代,差异有统计学意义(P<0.01)。结论:在本次所调查的两种不同类型的家系中,其子代(中间型β珠蛋白生成障碍性贫血患者)的中医证候(临床表现)以阴血亏虚为主,而亲代的中医证候则偏重于肾虚。子代与亲代在中医证候(临床表现)方面的差异可能与基因突变型以及一些遗传修饰成分等都有关。Objective： To explore the relationship between syndromes of traditional Chinese medicine （TCM） and genetic background in patients with β-thalassemia. Methods： TCM syndromes were surveyed in the selected 78 patients with β-thalassemia intermedia including 120 parents. The gene mutations were detected separately. The frequency and score of TCM syndromes between the offspring and their parents in different family types were analyzed, and the differences were compared. Results： The 73 families were divided into two family types by hereditary characteristics. Family type one meant that genotypes of one of the parents were normal, while the offspring genotypes were heterozygous and were exactly the same as another parent. In the 22 families of type one, the heterozygous offspring manifested 6 high-frequency symptoms and signs such as spontaneous perspiration, dry mouth and dry throat, pale or sallow complexion, tidal fever and night sweating, lassitude and pale fingernails. The heterozygous parents manifested 5 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, aversion to cold and cold limbs, tinnitus, dry mouth and dry throat. The normal parents manifested 3 hiqh-frequency symptoms and signs such as lassitude in loins and knees, dizziness, and spontaneous perspiration. TCM syndrome score in the heterozygous offspring was higher than that in the heterozygous and normal parents, but there was no significant difference （P〉0. 05）. Family type two meant that genotypes of both parents were heterozygous, while the offspring genotypes were heterogenic duplex heterozygotes. In the 51 families of type two, the offspring manifested 9 high-frequency symptoms and signs such as pale or sallow complexion, spontaneous perspiration, dry mouth and dry throat, pale fingernails, tidal fever and night sweating, lassitude, frequent attack of common cold, dysphoria with feverish sensation in chest, and yellow discoloration of the skin and sclera. The parents manifested 3 high-frequency s

关 键 词：Β地中海贫血 基因 证候 遗传学 医学 

分 类 号：R259[医药卫生—中西医结合]