Abstract
Polycystic ovary syndrome (PCOS) is the multigenic, endocrine disorder of young women. Inheritance of PCOS is likely to be oligogenic and genetic basis remains largely unknown. Screening the candidate genes of PCOS and their SNPs individually is time consuming. Hence, developing a tool that would help in screening multiple candidate genes simultaneously is essential to determine the exact genetic basis of PCOS. Objectives: This study aimed to develop a simple and cost-effective genetic screening tool to simultaneously genotype 16 single nucleotide polymorphisms (SNPs) of PCOS. Methods: The genetic screening tool was developed using allele specific real time quantitative PCR (AS-qPCR) in 96 well PCR plate. Eight SNPs identified in our previous study as well as 8 SNPs identified from other reported studies that had a strong association in the etiology of PCOS were used to develop the tool. Samples from our previous study were reanalyzed using the developed genetic screening tool. Genetic screening tool results were validated with Sanger sequencing. Results: Totally 10 AS-qPCR runs (160 reactions = 16SNPs*10runs) were performed using the developed tool and all except 3 genotype results agreed with Sanger sequencing. The tool showed 100% specificity and 96% sensitivity. Conclusion: The developed genetic screening tool has excellent potential in determining the genotype of multiple SNPs of PCOS simultaneously. This tool is highly suitable for developing countries as a cost effective and accurate early genetic screening test for PCOS. Thus, provides a reliable, fast and user-friendly genotyping method facilitating a wider implication in clinical practice.
Highlights
Polycystic ovary syndrome (PCOS) is the multigenic, endocrine disorder of young women
Totally 10 allele specific real time quantitative polymerase chain reaction (PCR) (AS-quantitative real-time PCR (qPCR)) runs (160 reactions = 16SNPs*10runs) were performed using the developed tool and all except 3 genotype results agreed with Sanger sequencing
The developed genetic screening tool has excellent potential in determining the genotype of multiple Single nucleotide polymorphism (SNP) of PCOS simultaneously. This tool is highly suitable for developing countries as a cost effective and accurate early genetic screening test for PCOS
Summary
Polycystic ovary syndrome (PCOS) is the multigenic, endocrine disorder of young women. Screening the candidate genes of PCOS and their SNPs individually is time consuming. Developing a tool that would help in screening multiple candidate genes simultaneously is essential to determine the exact genetic basis of PCOS. Polycystic ovary syndrome (PCOS) is a common, heterogeneous endocrine disorder of young women. It was initially described as an association of polycystic ovaries (PCO) with amenorrhea, hirsutism and obesity in women presenting with infertility [1]. The current clinical definition recognizes PCOS as a wide spectrum of presentations consisting of a combination of any two of the three key features: oligo-amenorrohea, hyperandrogenism and polycystic ovaries, with the proviso secondary causes are excluded. Due to the broad spectrum of symptoms with overlapping biochemical parameters of other disorders, the diagnosis of PCOS, often goes undetected until early adulthood due to the lack of Ceylon Medical Journal 2021; 66: 129-137
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