Laboratory of Hormones and Molecular Genetics LIM-42, Division of Endocrinology, Clinics Hospital, School of Medicine, São Paulo University, São Paulo, Brazil.
Horm Res Paediatr. 2010;73(4):238-43. doi: 10.1159/000284387. Epub 2010 Mar 9.
The androgen receptor gene is located on the X chromosome with a polymorphic tract of CAG repeats that is inversely correlated to the receptor's transactivation activity. A short CAG tract is associated with hyperandrogenic disorders. In women, one of the X chromosomes is inactivated and the X chromosome inactivation (XCI) pattern varies among tissues. Previous studies of hyperandrogenic disorders only evaluated XCI in leukocytes.
To evaluate whether the XCI pattern in leukocytes could be extrapolated to those in hair bulbs.
A total of 58 healthy women were used for this study. DNA was extracted from leukocytes (n = 58 women) and pubic (n = 53 women) and scalp hair (n = 21 women).
Hpa II digested and undigested DNA samples underwent fluorescence PCR GeneScan analysis.
A significant and positive correlation of XCI was found between leukocytes and hair bulbs. However, individual comparisons showed that 13 and 19% of the women presented a different leukocyte XCI pattern in pubic hair and scalp hair, respectively.
The XCI pattern was similar in leukocytes and hair bulbs of normal women indicating that leukocyte DNA is useful for XCI analysis. However, the XCI pattern could vary among tissues from the same subject, indicating that care should be taken when extrapolating individual leukocyte XCI patterns to other tissue.
雄激素受体基因位于 X 染色体上，其 CAG 重复多态性与受体的转录激活活性呈负相关。CAG 重复序列较短与雄激素过多症有关。在女性中，X 染色体中的一条失活，X 染色体失活（XCI）模式在组织间存在差异。以前对雄激素过多症的研究仅评估了白细胞中的 XCI。
评估白细胞中的 XCI 模式是否可以推断到毛囊中。
本研究共纳入 58 名健康女性。从白细胞（n = 58 名女性）、阴毛（n = 53 名女性）和头皮毛发（n = 21 名女性）中提取 DNA。
Hpa II 消化和未消化的 DNA 样本进行荧光 PCR GeneScan 分析。
白细胞和毛囊之间的 XCI 存在显著正相关。然而，个体比较显示，13%和 19%的女性阴毛和头皮毛发的白细胞 XCI 模式存在差异。
正常女性白细胞和毛囊的 XCI 模式相似，表明白细胞 DNA 可用于 XCI 分析。然而，同一受试者的不同组织之间的 XCI 模式可能存在差异，因此在将个体白细胞 XCI 模式推断到其他组织时应谨慎。
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