Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
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DOI：
10.1086/341123
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发表时间：
2002-07-01
影响因子：
9.8
通讯作者：
Willard, HF
中科院分区：
文献类型：
--
作者：
Plenge, RM;Stevenson, RA;Willard, HF
一些有害的X连锁突变可能导致这些细胞的生长不利，其中突变在活性X染色体上时影响细胞增殖或活力。为了探讨偏斜X染色体失活与X连锁精神发育迟滞（XLMR）疾病之间的关系，我们使用雄激素受体X失活测定来确定来自24个分离20个不同XLMR疾病的家庭的155名女性受试者的X失活模式。在XLMR携带者中，接近50%的人表现出明显的X染色体失活偏斜（即，模式大于或等于80：20），而只有10%的女性对照组（P
Some deleterious X-linked mutations may result in a growth disadvantage for those cells in which the mutation, when on the active X chromosome, affects cell proliferation or viability. To explore the relationship between skewed X-chromosome inactivation and X-linked mental retardation (XLMR) disorders, we used the androgen receptor X-inactivation assay to determine X-inactivation patterns in 155 female subjects from 24 families segregating 20 distinct XLMR disorders. Among XLMR carriers, similar to50% demonstrate markedly skewed X inactivation (i.e., patterns greater than or equal to80: 20), compared with only similar to10% of female control subjects (P