Nonrandom X chromosome inactivation detection.
Nonrandom X chromosome inactivation detection.
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DOI：
10.1002/0471142905.hg0907s80
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发表时间：
2014-01-21
影响因子：
--
通讯作者：
Jones, Julie R
中科院分区：
文献类型：
--
作者：
Jones, Julie R
X染色体失活模式可能在临床上用于评估肿瘤的克隆性，确定某些X连锁疾病的携带者状态，以及评估在X连锁基因中发现的遗传变异的致病性。该单元中的方案利用人类雄激素受体基因(AR)第一外显子内的高度多态的三核苷酸重复序列和甲基化敏感的限制酶HpaII来区分母亲和父亲的等位基因，并同时确定它们的甲基化状态。从这些方案中获得的数据可以用来计算两个等位基因之间的失活比率，这最终反映了女性X染色体失活的随机或非随机模式。
X chromosome inactivation patterns may be clinically useful in assessing tumor clonality, determining carrier status for certain X-linked disorders and evaluating the pathogenicity of a genetic variant identified in an X-linked gene. The protocols in this unit utilize the highly polymorphic trinucleotide repeat within the first exon of the human androgen receptor gene (AR) and the methylation-sensitive restriction enzyme HpaII to distinguish between the maternal and paternal alleles and simultaneously determine their methylation status. The data obtained from these protocols can be used to calculate the ratio of inactivation between the two alleles that ultimately reflects whether a female has a random or nonrandom pattern of X chromosome inactivation.