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BRCA1 基因多态性与加纳乳腺癌患者指掌纹特征:定量横断面研究。

BRCA1 gene polymorphism and finger dermatoglyphic patterns in Ghanaian breast cancer patients: a quantitative cross-sectional approach.

机构信息

Department of Anatomy, University of Ghana Medical School, University of Ghana, Accra, Ghana.

West African Center for Cell Biology of Infectious Pathogens, University of Ghana, Legon, Accra, Ghana.

出版信息

Pan Afr Med J. 2022 Dec 28;43:209. doi: 10.11604/pamj.2022.43.209.33136. eCollection 2022.

Abstract

INTRODUCTION

breast cancer development is linked to mutant single nucleotide polymorphism of breast cancer type 1 (BRCA1) gene usually harboured within exon 11. It has also been linked to finger dermatoglyphics where certain patterns have been associated with breast cancer. This study suggests a possible relationship between finger dermatoglyphic patterns and single nucleotide polymorphism of BRCA1 gene.

METHODS

in a quantitative cross-sectional approach, finger dermatoglyphic patterns were obtained using the ink method from 70 female breast cancer patients and 70 age-matched apparently healthy females. Approximately 5 ml of venous blood was obtained from each participant from which DNA was extracted from the white blood cells collected after centrifugation. DNA was amplified and sequenced and the data aligned with the wildtype template of BRCA1 gene. Fingerprint patterns were analyzed with Chi-square. Mean frequency of fingerprint patterns was analyzed with independent student's t-test. Differences in data set with p<0.05 were statistically significant.

RESULTS

luminal B was the predominant breast cancer molecular subtype among the patients. The predominant fingerprint pattern among breast cancer participants was the loop. Six or more loops had higher frequency among breast cancer females. The predominant BRCA1 gene variant locations were c.34311, c.34320, and c.34321 with c.34311A>C being the predominant variant. Higher percentage frequency of six or more loops in relation to c.34311A>C was observed in apparently healthy females compared to breast cancer females.

CONCLUSION

the study reports for the very first time in Ghana, BRCA1 gene variants and finger dermatoglyphics among breast cancer patients. Although the results are preliminary and inconclusive it creates an avenue for extended studies.

摘要

简介

乳腺癌的发展与乳腺癌 1 型(BRCA1)基因突变有关,这种突变通常存在于外显子 11 中。它也与指纹皮肤花纹有关,某些模式与乳腺癌有关。本研究旨在探讨 BRCA1 基因突变与指纹皮肤花纹之间的可能关系。

方法

采用定量横断面研究方法,用墨汁法从 70 例女性乳腺癌患者和 70 例年龄匹配的健康女性中获取指纹皮肤花纹。从每位参与者抽取约 5ml 静脉血,离心收集白细胞提取 DNA。对 DNA 进行扩增和测序,并将数据与 BRCA1 基因的野生型模板进行比对。采用卡方检验分析指纹模式,独立学生 t 检验分析指纹模式的均值频率。数据差异有统计学意义(p<0.05)。

结果

在患者中,腔 B 型是最主要的乳腺癌分子亚型。乳腺癌患者中最主要的指纹模式是环。乳腺癌女性中出现 6 个或更多环的频率更高。BRCA1 基因突变的主要位置是 c.34311、c.34320 和 c.34321,其中 c.34311A>C 是最主要的变异。与 BRCA1 基因 c.34311A>C 相比,健康女性中出现 6 个或更多环的频率更高。

结论

本研究首次在加纳报告了乳腺癌患者的 BRCA1 基因突变和指纹皮肤花纹。虽然结果初步且不确定,但为进一步研究提供了途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcab/10024563/c32f9066cc39/PAMJ-43-209-g001.jpg

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