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Skewed X-chromosome inactivation in patients with esophageal carcinoma

Gang Li1, Tianbo Jin2, Hongjuan Liang1, Yanyang Tu3, Wei Zhang4, Li Gong4, Qin Su45* and Guodong Gao1*

Author Affiliations

1 Department of Neurosurgery, Tangdu hospital, the Fourth Military Medical University, Xi’an, 710038, China

2 National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, Xi’an, 710069, China

3 Department of Clinical Experimental Surgery, Tangdu hospital, the Fourth Military Medical University, Xi’an, 710038, China

4 Department of Pathology, Tangdu Hospital, the Fourth Military Medical University, Xi’ an, 710038, China

5 Department of Pathology, Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China

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Diagnostic Pathology 2013, 8:55  doi:10.1186/1746-1596-8-55

Published: 4 April 2013


Skewed X-chromosome inactivation (SXCI) was found in some apparently healthy females mainly from Western countries. It has been linked to development of ovarian, breast and pulmonary carcinomas. The present study aimed to observe the SXCI frequencies in apparently healthy Chinese females and patients with esophageal carcinoma. DNA was extracted from the peripheral blood cells from 401 Chinese females without a detectable tumor and 143 female patients with esophageal carcinoma. Exon 1 of androgen receptor (AR) gene was amplified, and the products of different CAG alleles were resolved on denaturing polyacrylamide gels and visualized after silver staining. The corrected ratios (CR) of the products before and after HpaII digestion were calculated. As to the healthy females, when CR ≥ 3 was used as a criterion, SXCI was found in two (4.3%) of the 46 neonates, 13 (7.8%) of the 166 younger adults (16–50 years) and 37 (25.7%) of the 144 elderly females (51–96 years), with the frequency higher in the elderly subjects than in the two former groups (P < 0.05). When a more stringent criterion (CR ≥ 10) was used, SXCI was found in one (2.2%), two (1.2%) and 16 (11.1%) of the subjects in the three age groups, respectively, itsfrequency being higher in the elderly than in the younger age groups (P < 0.05). Occurrence of SXCI was detected in both the patients and controls at similar frequencies. However, the phenomenon, as defined as CR ≥ 3, was more frequent in the patients aging <40 years (35.7%) compared to the corresponding reference group (7.6%, P = 0.006). When CR ≥ 10 was adopted, the frequencies were 7.1% and 1.2%, respectively. Their difference did not attain statistical significance (P = 0. 217). SXCI also occurs in apparently healthy Chinese females, and is associated with age. It may be considered as a predisposing factor for the early development of esophageal carcinoma.

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Skewed X-chromosome inactivation; Androgen receptor gene; Carcinoma; Esophagus; Cancer predisposition