The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family.
We have found an example of the nonsense beta-thalassemia (thal) mutation at codon 37 (TGG-->TAG; Trp-->Stop) in a Chinese family. The fetus, who inherited both parents' beta-thalassemic alleles, was a compound heterozygote for the codons 41/42 (-TCTT) and codon 37 (TGG-->TAG) mutations, and presented with the phenotype of severe beta-thal.
Li
Dongzhi
D
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangdong, People's Republic of China. dongzhi3@yahoo.com.cn
Liao
Can
C
Li
Jian
J
Tang
Xuewei
X
D000025:Abortion, Eugenic; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D002681:China; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D017218:Cordocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000175:diagnosis / Q000196:embryology / Q000208:ethnology / Q000235:genetics*
D003062:Codon; D018389:Codon, Nonsense; D005914:Globins