title: High-resolution melting analysis of the three common nondeletional α-thalassemia mutations in the Chinese population: Hbs Constant Spring, Quong Sze and Westmead.
abstract: α-Thalassemia (α-thal) is one of the most common monogenic diseases worldwide and is widely distributed in southern China. There are two types of this disease at the DNA level: deletional and nondeletional α-thal. Hb Constant Spring [Hb CS, α142, Term→Gln (α2) (α(CS)α/αα)], Hb Quong Sze [Hb QS, α125(H8)Leu→Pro (α2) (α(QS)α/αα/)] and Hb Westmead [α122(H5)His→Gln (α2) (α(122)α/αα)] are the three common nondeletional mutations in the Chinese population. In this study, we developed an optimized protocol for identification of the three point mutations by high-resolution melting (HRM) analysis using a LightScanner. We successfully detected all the mutant samples with α(CS)α/αα, α(CS)α/- -(SEA), α(CS)α/-α(3.7), α(CS)α/-α(4.2), α(QS)α/αα, α(QS)α/- -(SEA), α(QS)α/-α(4.2), α(QS)α/α(QS)α, and α(122)α/αα. High-resolution melting analysis is a time-saving and cost-effective technique, and the method established here could be applied to screen the three common point mutations, especially in individuals whose partners are a carrier of α⁰-thal.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Li
authors.forename: Jian
authors.initials: J
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C045396:hemoglobin Quong Sze; C056329:Hemoglobin Westmead; C035541:Hemoglobin Constant Spring