Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis | Zendy

Ngouprommin L. | Zendy; Saeung N. | Zendy; Fucharoen S. | Zendy; Fucharoen G. | Zendy; Sanchaisuriya K. | Zendy; Jetsrisuparb A. | Zendy

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Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis

Author(s) -

Ngouprommin L.,

Saeung N.,

Fucharoen S.,

Fucharoen G.,

Sanchaisuriya K.,

Jetsrisuparb A.

Publication year - 2014

Publication title -

clinical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.543

H-Index - 102

eISSN - 1399-0004

pISSN - 0009-9163

DOI - 10.1111/cge.12128

Subject(s) - medical school , medicine , family medicine , thalassemia , medical genetics , medical education , library science , genetics , biology , computer science , gene

Fig. 1. (a) Map of Thailand showing the areas where subjects were recruited. Southeast Asian ovalocytosis (SAO) gene frequencies observed in Thailand and neighboring countries are depicted ( indicates catchment areas being studied, indicates other areas in neighboring countries where SAO gene frequencies have been reported). (b) A representative gel electrophoresis for identification of SAO mutation by polymerase chain reaction. The amplified fragments of 175 and 148 bp represent normal and mutant alleles, respectively. Lane 1 is normal control; lane 2 is heterozygous for SAO and lanes 3–6 are normal subjects. M represents the HyperLadder V markers (Bioline Ltd, London, UK). transmembrane domain of band 3 protein. Interaction of SAO with anion exchanger 1 (AE1) mutations could lead to a distal renal tubular acidosis.It might be a cause of anemia and hyperbilirubinemia in neonates

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