Nazir Fouzia, Inayatullah S, Jalali S
King Faisal Medical Complex Taif, Saudi Arabia.
Department of Biochemistry, Hazara University, Mansehra, Pakistan.
Int J Health Sci (Qassim). 2022 Sep-Oct;16(5):32-39.
Polycystic ovarian syndrome is a complex disorder commonly found in women in their reproductive age around the globe. Due to its higher clinical implications and communicability, this research article describes epidemiological studies and the association of known microsatellite markers with PCOS in the Pakistani population.
Data were collected from 62 Pakistani women. The study involved pedigree analysis which revealed recessive mode of inheritance in all of them. The mendelian ratio in marriages between non-PCOS (male) and PCOS (female) individuals remained 1:1 while between non-PCOS (male) and non-PCOS (female) remained 3:1, respectively.
The result showed that there was an association of marker D15S519 (CYP11A, 10q24.3) with family 5 with an X2 value of 7.78 ( < 0.01) while a strong association of marker D5S822 (FS, 5p14) with an X2 value of 4.89 ( < 0.05) was observed in family 2. In the case of family 1, a weak association of allele 1 with marker D19S212 (INSL3, 19p13.1) was observed with an X2 value of 2.25 ( > 0.10), While family 6 also presented a very weak association of homozygosity with marker D19S391 (INS receptor, 19p13.2) with X2 value of 3.45 ( ≥ 0.05).
Findings indicated a higher prevalence of PCOS and highlights the emergence of more interventions to minimize the level of complications in women. Our intrusions intended to describe the genetic basis of PCOS in Pakistani population with special emphasis on large families in current study. Moreover, association of known loci for PCOS with our families.
多囊卵巢综合征是一种常见于全球育龄女性的复杂疾病。鉴于其较高的临床影响和传染性，本文描述了巴基斯坦人群中多囊卵巢综合征的流行病学研究以及已知微卫星标记与该疾病的关联。
收集了62名巴基斯坦女性的数据。该研究涉及系谱分析，结果显示所有患者均为隐性遗传模式。非多囊卵巢综合征（男性）与多囊卵巢综合征（女性）个体结婚的孟德尔比率为1:1，而非多囊卵巢综合征（男性）与非多囊卵巢综合征（女性）结婚的孟德尔比率为3:1。
结果表明，标记D15S519（CYP11A，10q24.3）与家族5存在关联，X²值为7.78（<0.01）；而在家族2中观察到标记D5S822（FS，5p14）与X²值为4.89（<0.05）的强关联。在家族1中，观察到等位基因1与标记D19S212（INSL3，19p13.1）的弱关联，X²值为2.25（>0.10）；而家族6也显示出与标记D19S391（胰岛素受体，19p13.2）纯合性的非常弱的关联，X²值为3.45（≥0.05）。
研究结果表明多囊卵巢综合征的患病率较高，并强调需要采取更多干预措施以尽量减少女性的并发症水平。我们的研究旨在描述巴基斯坦人群中多囊卵巢综合征的遗传基础，特别强调本研究中的大家庭。此外，还研究了已知的多囊卵巢综合征基因座与我们研究的家族之间的关联。
