- VernacularTitle:近亲婚配家系中凝血因子Ⅶ与Ⅹ联合缺陷症的表型分析和突变鉴定
- Author:
Xingmei LIU
1
;
Li SU
;
Guifang LI
;
Xian WU
;
Rulei WANG
;
Shengwen HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; Child; Child, Preschool; China; DNA Mutational Analysis; Female; Humans; Infant; Leukosialin; genetics; Male; Middle Aged; Mutation; Platelet Membrane Glycoprotein IIb; genetics; Receptors, Interleukin-1 Type I; genetics; Young Adult; beta-Globins; genetics; beta-Thalassemia; diagnosis; ethnology; genetics
- From: Chinese Journal of Medical Genetics 2014;31(5):561-564
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the spectrum of β -thalassemia mutations in Guizhou Province.
METHODSFor 542 individuals suspected to have β -thalassemia by decreased mean corpuscular volume (MCV) and corpuscle hemoglobin (MCH) by routine blood test and hemoglobin electrophoresis, reverse dot blot hybridization (RDB) was performed to detect 17 known β -thalassemia mutations, including 8 common and 9 rare mutations. For cases where no mutation was identified, the entire human β -globin gene was screened to find other rare mutations. The distribution and frequencies of detected β -thalassemia mutations were then analyzed.
RESULTSA total of 460 individuals were diagnosed as β -thalassemia by DNA analysis, which included 352 heterozygotes, 67 compound heterozygotes and 41 mutant homozygotes. A total of 12 β -thalassemia mutations were detected in these individuals. The mutations have ranked from high to low frequency as: CD17 (40.74%), CD41-42 (33.69%), IVS-II-654 (13.76%), -28 (3.70%), β E (3.35%), CD71-72(1.94%), CD43 (1.06%), IVS-I-1 (0.71%), CD27-28 (0.35%), -29(0.35%), CAP (0.18%), and CD121 (0.18%). The former six mutations have accounted for 97.18% of all. CD121 (GAA> TAA) detected from a heterozygote, as a dominant mutation, has been firstly found in the Chinese population.
CONCLUSIONThe spectrum of β -thalassemia in Guizhou Province showed certain distinct characteristics, with CD17 being the most common mutation. The newly discovered mutation of CD121 has expanded the spectrum of β -thalassemia in Chinese population. Our result may provide valuable information for the prevention and control of β -thalassemia in Guizhou.