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A statistical measure for the skewness of X chromosome inactivation based on family trios.


ABSTRACT:

Background

X chromosome inactivation (XCI) is an important gene regulation mechanism in females to equalize the expression levels of X chromosome between two sexes. Generally, one of two X chromosomes in females is randomly chosen to be inactivated. Nonrandom XCI (XCI skewing) is also observed in females, which has been reported to play an important role in many X-linked diseases. However, there is no statistical measure available for the degree of the XCI skewing based on family data in population genetics.

Results

In this article, we propose a statistical approach to measure the degree of the XCI skewing based on family trios, which is represented by a ratio of two genotypic relative risks in females. The point estimate of the ratio is obtained from the maximum likelihood

SUBMITTER: Xu SQ 

PROVIDER: S-EPMC6282303 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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