A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family.
We provide the first description of a Chinese family with three heterozygotes for a rare beta-thalassemia mutation previously observed in a Portuguese carrier. The mutation (-90 C-T) changes the conserved promoter sequence within the proximal CACCC box of the beta-globin gene; this can reduce beta-globin transcription significantly.
Jia
Shiqi
S
Lao
Xiongwu
X
Li
Wenjun
W
Ma
Jianying
J
Mo
Qiuhua
Q
Xu
Xiangmin
X
D002681:China; D017124:Conserved Sequence / Q000235:genetics; D003596:Cytosine / Q000378:metabolism*; D006580:Genetic Carrier Screening; D005914:Globins / Q000235:genetics*; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D013936:Thymidine / Q000378:metabolism*; D017086:beta-Thalassemia / Q000235:genetics*
D003596:Cytosine; D005914:Globins; D013936:Thymidine