Abstract
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.
MeSH terms
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Abortion, Eugenic
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Adult
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Alleles
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Asian People / genetics
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Child, Preschool
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China
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Codon / genetics
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Codon, Nonsense*
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Cordocentesis
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Female
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Fetal Diseases / diagnosis
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Fetal Diseases / genetics*
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Globins / genetics*
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Heterozygote
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Humans
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Male
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Phenotype
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Pregnancy
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Prenatal Diagnosis
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Sequence Analysis, DNA
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beta-Thalassemia / diagnosis
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beta-Thalassemia / embryology
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beta-Thalassemia / ethnology
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beta-Thalassemia / genetics*
Substances
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Codon
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Codon, Nonsense
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Globins