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Identification of Copy Number Variants in a Cohort of Women with Premature Ovarian Insufficiency

Engel, Natalie Joy (2011) Identification of Copy Number Variants in a Cohort of Women with Premature Ovarian Insufficiency. Master's Thesis, University of Pittsburgh. (Unpublished)

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Premature ovarian failure (POF), or premature ovarian insufficiency (POI), is characterized by the absence or early cessation of menstruation before the age of 40. Clinically this can be seen as primary amenorrhea, the complete absence of menstruation, or secondary amenorrhea, the development of amenorrhea due to cessation of ovarian function. POI affects approximately 1% of women under the age of 40 years and 0.1% of women under the age of 30. Most cases of POI are idiopathic, as only 10% have a known cause. We utilized SNP array technology to identify novel copy number variations (CNV's) in 89 women with POI. Illumina's (San Diego, CA, USA) HumanCNV370-Duo DNA Analysis BeadChip and Human660W-Quad v1 DNA Analysis BeadChip were used to identify microdeletions and microduplications on autosomal chromosomes. A total of 198 autosomal CNV's were identified ranging from 0.1 Mb to 3.4 Mb. The Database of Genomic Variants (DGV) was used as a control population. We identified seven novel microdeletions in our POI cohort, six of which contained gene-coding regions: 8q24.13, 10p15-p14, 10q23.31, 10q26.3, 15q25.2, and 18q21.32. Two of the novel microdeletions contained genes known to cause ovarian failure in knockout mice models, SYCE1 and CPEB1. Seventeen novel microduplications were also detected, with the majority of CNV's detected being on autosomal chromosomes rather than the X chromosome. This pilot study demonstrates an association between specific CNV's and POI and highlights the importance for studies with larger samples sizes to confirm the findings and further support the hypothesis. Furthermore, array technology may be a useful addition to conventional karyotyping when evaluating women with POI. Studies on the genetic factors of POI have public health significance because they search for genomic imbalances in a disease that affects 1% of the American population. Finding the genetic causes may lead to effective treatment methods and earlier recognition of those at risk, particularly before the onset of amenorrhea.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Engel, Natalie
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairRajkovic,
Committee MemberGettig, Elizabethbgettig@pitt.eduBGETTIG
Committee MemberWilson, John Wjww@pitt.eduJWW
Committee MemberBarmada, M Michaelbarmada@pitt.eduBARMADA
Date: 29 June 2011
Date Type: Completion
Defense Date: 5 April 2011
Approval Date: 29 June 2011
Submission Date: 5 April 2011
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: premature ovarian failure; SNP array; copy number variants; premature ovarian insufficiency
Other ID:, etd-04052011-152145
Date Deposited: 10 Nov 2011 19:34
Last Modified: 15 Nov 2016 13:38


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