Analysis of Chinese women with primary ovarian insufficiency by high resolution array-comparative genomic hybridization

Chinese Medical Journal

Volumn 124, Issue 11, 2011, Pages 1739-1742

  Liao, Can ^a   Fu, Fang ^a   Yang, Xin ^a   Sun, Yi Min ^a,b   Li, Dong Zhi ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

^b NATIONAL ENGINEERING RESEARCH CENTER FOR BEIJING BIOCHIP TECHNOLOGY   (China)

Author keywords

Array based comparative genomic hybridization technology; NSF gene deletion; Primary ovarian insufficiency

Indexed keywords

GENOMIC DNA; N ETHYLMALEIMIDE SENSITIVE FACTOR;

ADULT; AMENORRHEA; ARTICLE; CHINESE; CHROMOSOME 17Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CYTOGENETICS; DNA HYBRIDIZATION; FEMALE; GENE; HUMAN; KARYOTYPE; NSF GENE; PREMATURE OVARIAN FAILURE; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; KARYOTYPING; POLYMERASE CHAIN REACTION; PRIMARY OVARIAN INSUFFICIENCY; YOUNG ADULT;

EID: 79957904885     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2011.11.025     Document Type: Article

References (15)

1. Goswami D, Conway GS. Premature ovarian failure. Hum Reprod Update 2005; 11: 391-410.
2. Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis 2006; 1: 9.
3. Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod 2003; 18: 199-206.
4. Tibiletti MG, Testa G, Vegetti W, Alagna F, Taborelli M, Dalprà L, et al. The idiopathic forms of premature menopause and early menopause show the same genetic pattern. Hum Reprod 1999; 14: 2731-2734.
5. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol 2008; 68: 499-509.
6. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999; 89: 186-200.
7. Kalantaridou SN, Davis SR, Nelson LM. Premature ovarian failure. Endocrinol Metab Clin North Am 1998; 27: 989-1006.
8. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006; 38: 1032-1037.
9. Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, et al. A new chromosome 17q21.31microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006; 38: 999-1001.
10. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008; 45: 710-720.
11. Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, et al. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Cytogenet Genome Res 2009; 127: 61-66.
12. Brand AH, Perrimon N. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 1993; 118: 401-415.
13. Golby JA, Tolar LA, Pallanck L. Partitioning of N-ethylmaleimide-sensitive fusion (NSF) protein function in drosophila melanogaster: dNSF1 is required in the nervous system, and dNSF2 is required in mesoderm. Genetics 2001; 158: 265-278.
14. Zhao C, Slevin JT, Whiteheart SW. Cellular functions of NSF: not just SNAPs and SNAREs. FEBS Lett 2007; 22: 581: 2140-2149.
15. Singh SR, Briski KP. Central GABAA but not GABAB receptors mediate suppressive effects of caudal hindbrain glucoprivation on the luteinizing hormone surge in steroid-primed, ovariectomized female rats. J Neuroendocrinology 2005; 17: 407-412.