Balkan Journal of Medical Genetics

COPY NUMBER VARIATIONS IN FEMALE INFERTILITY IN CHINA
Huang W*, Wang J, Pang M, Zhao Q, Kong L, Mao Y, Li W, Liang B
*Corresponding Author: Professor Weidong Huang, Reproductive Medicine Center, XinJiang JiaYin Hospital, 48 Nanhu North Road, Shuimogou District, Urumchi, Xinjiang Province, 830000, People’s Republic of China. Tel: +86-2363631402. Fax: +86-9914887187. E-mail: hwd@jynk.com
page: 5

INTRODUCTION

Copy number variations (CNVs) have been found to be responsible for a wide range of human diseases; CNVs on sex chromosomes are more likely to play key roles in germ cell development [1-4]. In the past two decades, CNVs causing male infertility have been widely reported, such as the sex chromosome CNVs (Y chromosomal microdeletions and X-link CNVs) [5-10]. Furthermore, the role of CNVs in female infertility is still poorly understood. A few studies have reported that CNVs may disrupt key genes and pathways of ovaries, leading to premature ovarian failure (POF). Some CNVs are also related to genetic factors causing female infertility, such as the associated microdeletions/duplications in XY gonadal dysgenesis syndrome (XY-GD), MRKH (Mayer-Rokitansky-Küster- Hauser) syndrome [11-14]. However, the correlation between female infertility and CNVs still remains elusive, especially for the female infertility in China. Array comparative genomic hybridization (aCGH) is the well-accepted standard for identifying CNVs, but aCGH has disadvantages including restrictive requirement of DNA quality and relatively high cost. In recent years, next generation sequencing (NGS) technologies have been widely applied in chromosome aneuploidy testing and CNVs detection [7,15,16]. Next generation sequencing has several advantages: low cost, short period, high resolution, high accuracy and, small amount of input DNA. The microdeletion and microrepetition of chromosomal fragments can be found by analyzing the CNVs. Dong et al. [7] tested CNVs by high-throughput genome-wide sequencing on 33 male patients in China with spermatogenic failure. Liu et al. [15] found novel Y-chromosomal microdeletions were associated with non obstructive azoospermia using a highthroughput sequencing method. Wang et al. [16] showed that semiconductor sequencing is of equivalent efficacy as an aCGH in detecting CNVs of >1 Mb. In this study, we investigated the correlation between the genome CNVs and female infertility by NGS. We further identified CNVs characteristics for Chinese female infertility samples and provide reference for female infertility etiology research.

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