Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ (Aγδβ)-thal deletion / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the genotype of a patient suspected for thalassemia through a series of experiments.</p><p><b>METHODS</b>Conventional methods for detecting common thalassemia mutations was used in conjunction with multiplex ligation-dependent probe amplification (MLPA) in order to determine the genotype of the patient. Corresponding primers were designed for developing a Gap-PCR system for detecting rare type mutations.</p><p><b>RESULTS</b>The patient was identified as a homozygote for Chinese Gγ(Aγ&delta;β)-thal deletion, with clinical manifestations tending to be intermediate or severe based on the hematological characteristics. A Gap-PCR system has been developed for detecting the above mutation with accuracy and rapidity.</p><p><b>CONCLUSION</b>The Chinese Gγ(Aγ&delta;β)-thal is prevalent in southern China, and caution should be taken to avoid misdiagnosis. The Gap-PCR system for detecting Chinese Gγ(Aγ&delta;β)-thal is suitable for extended applications for its simplicity and rapidity.</p>