Analysis of Thrombophilia Gene Screening Results in Blood Samples of 582 16-year-old Adolescents in Xi'an Area
10.3969/j.issn.1671-7414.2024.06.035
- VernacularTitle:西安地区582例16岁青少年血液易栓症基因筛查结果分析
- Author:
Yichen ZHANG
1
,
2
;
Ning AN
;
Yaozhen CHEN
;
Xingbin HU
Author Information
1. 空军军医大学第一附属医院输血科,西安 710032
2. 陕西省中医药大学临床医学系,陕西 咸阳 712046
- Keywords:
adolescent;
thrombophilia genes;
thrombotic diseases;
molecular genetics;
Xi'an area
- From:
Journal of Modern Laboratory Medicine
2024;39(6):201-205
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutation rates of thrombolytic genes antiphospholipid antibody(APOH),thrombo-regulatory protein(THBD)and PC anticoagulant protein(PROC),providing a theoretical basis for the prevention and treatment of thrombolytic diseases in adolescents.Methods A total of 582 cases 16-year-old adolescents who underwent routine physical examination from May to December 2019 were selected as the study objects.The gene loci such as PROC c.574_576del,THBD c.-151G>T and APOHc.461G>A were detected by PCR-RFLP genotyping detection and gene sequencing technology,and statistical analysis was performed on mutation rates.Results PCR-RFLP genotyping detecting of 582 samples showed that the mutation rate of PROC c.574_576del was about 0.69%(4/582),which was lower than the overall mutation rate in the Chinese population(2.4%),while the mutation rates of THBD c.-151G>T and APOHc.461G>A were about 2.92%(17/582)and 12.71%(74/582),which were higher than the overall mutation rates in Chinese population(0.97%,10.27%).Sequencing analysis showed that APOHc.461G>A mutation was linked with APOHc.422T>C and APOHc.1004G>C mutation.Conclusion The mutation rate of thrombolytic gene in adolescents is different from that of the whole population.The mutation rates of APOHc.461G>A and THBD c.-151G>T are higher than those of the whole Chinese population,indicating that timely detection should be used in the diagnosis and treatment of thrombolytic diseases in adolescents.
