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青春期功血少女整合素β 3(ITGB3)GP IIIA 基因 PLA1/PLA2 多态性标记的遗传筛查。

Genetic screening of PLA1/PLA2 polymorphous marker of integrin beta 3 (ITGB3) GP IIIA gene in adolescent girls with puberty menorrhagia.

机构信息

Department of Obstetrics and Gynecology, Bukovinian State Medical University, Chernivtsi, Ukraine.

Materno-Fetal Assistance Excellence Unit, Polizu Clinical Hospital, Alessandrescu-Rusescu National Institute for Mother and Child Health, Bucharest, Romania.

出版信息

J Med Life. 2023 Feb;16(2):261-266. doi: 10.25122/jml-2022-0350.

Abstract

Puberty menorrhagia is one of the urgent problems of modern reproductive medicine. The study aimed to investigate the relationship between polymorphism of the GP IIIa (PLA1/PLA2) gene and improve the diagnosis of puberty menorrhagia in girls with thyroid gland pathology. Ninety-seven girls at puberty age were divided into three groups: group 1 (main) - girls with puberty menorrhagia and thyroid gland pathology (30 individuals), group 2 (comparison) - 40 girls with puberty menorrhagia, group 3 (control) - 27 practically healthy girls. Polymorphism of the GP IIIa (PLA1/PLA2) gene was studied by isolating genomic DNA from peripheral blood leukocytes, followed by amplification with a polymerase chain reaction. Results showed that mutation in the 17 chromosome of q21.32 of the GP IIIa gene occurred in 8.6% of cases among adolescents with menorrhagia, in contrast to the control group, where it was not observed at all. The A1A1-genotype occurred by 11.7% (X=4.01, p=0.041) more often in adolescents with menorrhagia than in girls with concomitant thyroid gland pathology and by 15.0% (X=4.54, p=0.033) more often than in the control group. It was also found that the presence of the A1A2-genotype unreliably reduced the chances of uterine bleeding in adolescent girls by 1.45 times (OR=2.12) and was a protective factor in the puberty menorrhagia occurrence (OR=0.47). It may be concluded that the identification of a hereditary factor of the reproductive system diseases of adolescent girls fundamentally changes the point of view on the tactics of disease management and subsequent therapy.

摘要

青春期月经过多是现代生殖医学的紧迫问题之一。本研究旨在探讨 GP IIIa(PLA1/PLA2)基因多态性与改善伴有甲状腺病理的青春期女孩月经过多的诊断之间的关系。97 名青春期女孩分为三组:第 1 组(主要组)-伴有青春期月经过多和甲状腺病理的女孩(30 人),第 2 组(对照组)-40 名青春期月经过多的女孩,第 3 组(对照组)-27 名健康的女孩。通过从外周血白细胞中分离基因组 DNA,然后进行聚合酶链反应扩增来研究 GP IIIa(PLA1/PLA2)基因的多态性。结果表明,在患有月经过多的青少年中,17 号染色体 q21.32 处的 GP IIIa 基因突变发生率为 8.6%,而在对照组中则完全没有观察到。A1A1 基因型在月经过多的青少年中发生的频率比同时患有甲状腺疾病的青少年高 11.7%(X=4.01,p=0.041),比对照组高 15.0%(X=4.54,p=0.033)。还发现,A1A2 基因型的存在不可靠地使青春期女孩发生子宫出血的几率降低了 1.45 倍(OR=2.12),并且是青春期月经过多发生的保护因素(OR=0.47)。可以得出结论,识别青春期女孩生殖系统疾病的遗传因素从根本上改变了对疾病管理和后续治疗策略的看法。

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