X连锁性铁粒幼细胞贫血家系新发现ALAS2基因G514A突变  

A novel mutation in the ALAS2 gene causes X-linked sideroblastic anemia.

作　　者：许蔚林[1] 朱平[1] 

机构地区：[1]北京大学第一医院血液内科,100034

出　　处：《中国优生与遗传杂志》2009年第1期16-17,26,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的明确2例患有铁粒幼细胞贫血同胞兄弟系X连锁性铁粒幼细胞贫血,并鉴定其家系的ALAS2基因。方法利用PCR-SSCP技术分析该家系先证者,外祖父母,父母及其患病兄弟6人的ALAS2基因,确定存在基因突变,之后通过测序分析明确具体突变的位点及碱基。结果该两例患儿在ALAS2基因第5外显子都存在突变,该突变来自于母系家族,其母亲和外祖母为携带者;通过测序分析进一步明确具体的突变为ALAS2基因G514A突变,导致甲硫氨酸被异亮氨酸所替代。结论该家系患者为ALAS2基因突变所致的X连锁性铁粒幼细胞贫血,存在一种新的突变基因-ALAS2基因第5外显子G514A突变。Objective ： To conform the anemia of two brothers is X - linked sideroblastic anemia caused by the mutation in ALAS2 gene. Methods ： PCR - SSCP analysis was used to find the mutation of ALAS2 gene in 6 members of the family, then DNA sequencing was used to conform it. Results ： Both brothers have a mutation in exon 5 of ALAS2 gene. The mutation was inherited from their maternal family. Their mother and maternal grandmother are the carriers. The mutation in ALAS2 gene is G514A causing methoinine to isoleusine. Conclusion ： The anemia of this family is X - linked sideroblastic anemia caused by a novel mutation in exon 5 of ALAS2 gene.

关 键 词：铁粒幼细胞贫血 基因突变 ALAS2 PCR-SSCP 

分 类 号：R556[医药卫生—血液循环系统疾病]