Khan Muhammad Jaseem, Nazli Rubina, Ahmed Jawad, Basit Sulman
Muhammad Jaseem Khan, M.Phil. Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
Dr. Rubina Nazli, MBBS, PhD. Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.
Pak J Med Sci. 2018 May-Jun;34(3):540-545. doi: 10.12669/pjms.343.14644.
BACKGROUND & OBJECTIVE: Polycystic Ovary Syndrome (PCOS) is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families.
Three Pakistani families segregating PCOS in an apparently autosomal recessive mode were recruited. Whole genome Single Nucleotide Polymorphism (SNP) genotyping and Whole Exome Sequencing (WES) were carried out to identify the candidate genes.
SNP genotypes data analyses identified multiple regions of homozygosity on different chromosomes. WES was performed in affected members of the family. Screening for pathogenic mutations in homozygous regions failed to detect any mutation/variant of interest.
PCOS is multifactorial and complex disease so variants in the coding as well as in non-coding regions may be the genetic causes of the disease. To elucidate the genetic cause(s) of the PCOS, Whole Genome Sequencing (WGS) is recommended to cover both coding and non-coding regions of the genome.
多囊卵巢综合征（PCOS）是女性不孕的主要原因。PCOS是一种复杂的多因素疾病，遗传和环境因素是重要的诱发因素。由于该疾病的复杂性，PCOS的诊断较为困难；因此，需要更好的诊断测试来改善其管理。本研究的目的是阐明三个巴基斯坦家庭中PCOS的遗传原因。
招募了三个以明显常染色体隐性模式分离PCOS的巴基斯坦家庭。进行全基因组单核苷酸多态性（SNP）基因分型和全外显子组测序（WES）以鉴定候选基因。
SNP基因型数据分析确定了不同染色体上的多个纯合区域。对家族中的患病成员进行了WES。在纯合区域筛查致病突变未能检测到任何感兴趣的突变/变异。
PCOS是一种多因素的复杂疾病，因此编码区和非编码区的变异可能是该疾病的遗传原因。为了阐明PCOS的遗传原因，建议进行全基因组测序（WGS）以覆盖基因组的编码区和非编码区。
