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Copy Number Variation in Han Chinese...

Gazzellone, Matthew Joseph.

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Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder.

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder./
作者:	Gazzellone, Matthew Joseph.
面頁冊數:	88 p.
附註:	Source: Masters Abstracts International, Volume: 54-02.
Contained By:	Masters Abstracts International54-02(E).
標題:	Genetics. -
電子資源:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=1572099
ISBN:	9781321455120

Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder.
Gazzellone, Matthew Joseph.

Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder. - 88 p.

Source: Masters Abstracts International, Volume: 54-02.

Thesis (M.Sc.)--University of Toronto (Canada), 2014.

This item must not be sold to any third party vendors.

Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare copy number variations (CNVs) account for a proportion of the genetic events involved, but their contribution in non-European ASD populations has not been well studied. This thesis examines rare CNVs detected in a cohort of Han Chinese individuals with ASD. Using the Affymetrix CytoScan HD platform, we genotyped DNA from 104 ASD trios from Harbin, China. Of the probands, 8.6% had one or more de novo CNVs. Several candidate risk genes were also identified. A 24-kb duplication was found overlapping YWHAE (an ASD candidate gene). This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations.

ISBN: 9781321455120Subjects--Topical Terms:

530508
Genetics.

Copy Number Variation in Han Chinese Individuals with Autism Spectrum Disorder.
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