First Description of a β-Thalassemia Mutation, -86 (C > G) (HBB: c.-136C > G), in a Chinese Family.
We present the first description of a Chinese family with a β-thalassemia (β-thal) mutation -86 (C > G) (HBB: c.-136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the β-globin gene that leads to a phenotype of β(+)-thal. The β-globin haplotype analysis revealed that the -86 mutation in our case was linked with haplotype I [+ - - - - + +]. This haplotype was commonly found both in the β-thal mutation and the β(A) gene. Our results suggest that the -86 mutation possibly does not have a distinct origin.
a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women & Children Care Hospital , Nanning , Guangxi , People's Republic of China.
Sheng
S
He
b Prenatal Diagnosis Center, Baise Women & Children Care Hospital , Baise , Guangxi , People's Republic of China.
Qian
Q
Qin
a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women & Children Care Hospital , Nanning , Guangxi , People's Republic of China.
Shang
S
Yi
c Department of Medical Genetics , School of Basic Medical Sciences, Southern Medical University , Guangzhou , Guangdong , People's Republic of China.
Wanjun
W
Zhou
b Prenatal Diagnosis Center, Baise Women & Children Care Hospital , Baise , Guangxi , People's Republic of China.
Jianping
J
Deng
a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women & Children Care Hospital , Nanning , Guangxi , People's Republic of China.
Chenguang
C
Zheng
a Prenatal Diagnosis Center, Guangxi Zhuang Autonomous Region Women & Children Care Hospital , Nanning , Guangxi , People's Republic of China.
Biyan
B
Chen
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D004909:Erythrocyte Indices; D005190:Family; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
D055544:beta-Globins
CACCC box; phenotype; β-Thalassemia (β-thal)