Application of array-based comparative genomic hybridization in primary amenorrhea women
10.3760/cma.j.issn.1009-9158.2010.11.016
- VernacularTitle:基于微阵列芯片的比较基因组杂交技术在原发性闭经患者中的应用
- Author:
Qiong FENG
;
Fang FU
;
Can LIAO
;
Xin YANG
;
Liang ZHANG
;
Feng TIAN
;
Bin CAI
;
Shuai LIU
- Publication Type:Journal Article
- Keywords:
Amenorrhea;
Microarray analysis;
Nucleic acid hybridization
- From:
Chinese Journal of Laboratory Medicine
2010;33(11):1079-1082
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the molecular mechanisms of primary amenorrhea by using arrayCGH technology. Methods Ten patients with primary amenorrhea and 10 female volunteers with regular menstrual cycles as healthy controls were selected. All patients and control samples were analyzed by conventional chromosome analysis (G-banding technology) and array-CGH technology, respectively. ArrayCGH was performed using Affymetrix Cytogenetic 2. 7M arrays following the manufacturer's standard protocol. Results Both the patient group and control group analyzed by conventional G-banding karyotype technology showed a negative result with a normal female karyotype: 46, XX. The result of array-CGH analysis demonstrated a microdeletion of approximately 110 000 bp located at the end of the short arm of X chromosome [46, X, del (X) (p22. 33 )] were identified in 5 patients, which was not detected in the control group. All healthy control samples by array-CGH analysis showed no pathological DNA copy number variation. Conclusions Array-CGH technology can improve the diagnosis rate of chromosomal disease at the DNA level. It is necessary to provide array-CGH for higher resolution genetic analysis of idiopathic primary amenorrhea patient who can not be identified by conventional technology.
