[Study on genetic diagnosis and prenatal diagnosis of alpha-thalassemia]

To develop a single-tube multiplex polymerase chain reaction (mPCR) technique to detect three common deletional alpha-thalassemias (alpha-Thal) in Chinese, and to perform genetic diagnosis and prenatal diagnosis for an alpha-Thal family from Hebei province, China.

Fourty-two blood samples including samples from one alpha-Thal family from Hebei province were assayed. The mPCR containing 7 primers, gel electrophoresis and DNA sequencing were used for the genetic diagnosis and prenatal diagnosis.

The gene types of the fourty-two DNA samples analyzed by the mPCR-gel electrophoresis technique were in accordance with the results by Southern blot and three separate PCR techniques. A HbH child and a fetus of the alpha-Thal family were diagnosed as--(SEA)/alpha(cs)alpha and alpha alpha/alpha alpha respectively by using the mPCR and DNA sequencing. The result of postnatal analysis of the cord blood was consistent with the prenatal result (alpha alpha/alpha alpha).

The developed mPCR technique can be used for genetic diagnosis and prenatal diagnosis of the 3 deletional alpha-Thal in Chinese.