التفاصيل البيبلوغرافية
| العنوان: |
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation–Related Autosomal Recessive Distal Renal Tubular Acidosis. |
| المؤلفون: |
Deejai, Nipaporn, Wisanuyotin, Suwannee, Nettuwakul, Choochai, Khositseth, Sookkasem, Sawasdee, Nunghathai, Saetai, Kiattichai, Yenchitsomanus, Pa-thai, Rungroj, Nanyawan |
| المصدر: |
Laboratory Medicine; 2019, Vol. 50 Issue 1, p78-86, 9p, 2 Diagrams, 3 Charts, 1 Graph |
| مصطلحات موضوعية: |
KIDNEY diseases, ACIDOSIS, CHROMOSOME abnormalities, DNA, GENETIC counseling, GENETIC polymorphisms, GENETIC techniques, KIDNEY tubules, MOLECULAR diagnosis, GENETIC mutation, PEDIATRICS, POLYMERASE chain reaction, PRENATAL diagnosis, RESEARCH funding, GENETIC testing, NUCLEIC acid amplification techniques, SEQUENCE analysis, DIAGNOSIS, GENETICS |
| مصطلحات جغرافية: |
THAILAND |
| مستخلص: |
Background Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations. In this study, we applied the high-resolution melting (HRM) method for screening of AR dRTA associated with SLC4A1 mutations in 10 new patients with unknown cause(s) of AR dRTA. Methods We analyzed SAO and G701D mutations in the patients and their family members using HRM. The results were confirmed by polymerase chain reaction–restriction fragment-length polymorphism (PCR-RFLP) and DNA sequencing techniques. Results All patients carried homozygous G701D mutation, whereas their family members had heterozygous G701D or homozygous wild-type. Conclusions Homozygous G701D is a common cause of AR dRTA in ethnic Thai pediatric populations. HRM can be used as a rapid screening method for common SLC4A1 mutations that cause AR dRTA in Southeast Asian and other populations. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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