Beta-thalassemia (beta 90 GAG-->TAG): genetic diagnosis by allele-specific polymerase chain reaction and estimation of mutant mRNA expression by reverse transcription polymerase chain reaction.

Abstract excerpt

Genetic diagnosis of a family of beta-thalassemia (beta 90 GAG-->TAG) was carried out by allele-specific polymerase chain reaction (AS-PCR). The proband, her daughter and granddaughter were proved to be heterozygotes of normal and mutant alleles. As some nonsense mutations express a decreased amo...

Topics

• Alleles
• Female
• Gene Expression
• Genetic Carrier Screening
• Globins
• Humans
• Male
• Middle Aged
• Nucleic Acid Hybridization
• Pedigree
• Point Mutation
• Polymerase Chain Reaction