To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymer...To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing. Four distinct point mutations (Gly743Arg, Va1866Met, Arg752Gln, T2919→deletion) were identified in 4patients, and all the mutations were localized in exons E or G encoding androgen binding domain of AR. The frame-shift mutation caused by deletion of T2919 had not been reported yet so far, therefore, It was a novel mutation. Detection of the AR gene in 2 mothers showed both of them were heterozygotes carrying the same mutationsas their daughters. our study was helpful for further delineating the diversity of genetic alterations of the AR gene in patients with AlS and better understanding the relationships between structure and function of AR.展开更多
Objective: To study the relationship between the polymorphic (CAG)n micro-satellite of human androgen receptor (bAR) gene and prostate cancer (Pca). Methods: The number of (CAG)n repeats in 107 normal males were measu...Objective: To study the relationship between the polymorphic (CAG)n micro-satellite of human androgen receptor (bAR) gene and prostate cancer (Pca). Methods: The number of (CAG)n repeats in 107 normal males were measured by a two-step [α-32P]-dCTP incorporated asymmetric polymeric chain reaction (PCR), and the (CAG)n repeats of both malignant and nonmalignant prostate cells in fixed paraffin-embedded tissue (PET) specimen from 36 case of Pca were determined by sequence analysis. Results: The repeats of polymorphic (CAG) n among normal men ranged from 11 to 29, and the most frequent repeat was 22(18. 69%), with 23(14. 02%), 24(10. 28%) and 21(10. 28%) being less frequent. The (CAG)n repeats of malignant prostate cells equaled to that of nonmalignant adjacent prostate tissue cells from the same PET specimen in all 36 Pca, and the (CAG)n repeats in 36 Pca which ranged from 16 to 22 were shorter than that in normal males significantly (P＜0. 05), while no significant difference in (CAG)n repeats among various grade of tumor's differentiation(well-differentiated, intermediate-differentiated and poor-differentiated) was found (P＞ 0. 05). Conclusion: The present study suggest that short hAR gene (CAG)n micro-satellite might be associated with the occurrence of Pca, but not with the differentiation of Pca.展开更多
文摘To further investigate the molecular mechanism of androgen insensitivity syndromes (AIS), exons B to H of the androgen receptor (AR) gene in seven Chinese patients with Complete AlS (CAIS) were examined by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis and direct DNA sequencing. Four distinct point mutations (Gly743Arg, Va1866Met, Arg752Gln, T2919→deletion) were identified in 4patients, and all the mutations were localized in exons E or G encoding androgen binding domain of AR. The frame-shift mutation caused by deletion of T2919 had not been reported yet so far, therefore, It was a novel mutation. Detection of the AR gene in 2 mothers showed both of them were heterozygotes carrying the same mutationsas their daughters. our study was helpful for further delineating the diversity of genetic alterations of the AR gene in patients with AlS and better understanding the relationships between structure and function of AR.
基金Supported by the National Natural Science Foundation of China (No. 39670300)
文摘Objective: To study the relationship between the polymorphic (CAG)n micro-satellite of human androgen receptor (bAR) gene and prostate cancer (Pca). Methods: The number of (CAG)n repeats in 107 normal males were measured by a two-step [α-32P]-dCTP incorporated asymmetric polymeric chain reaction (PCR), and the (CAG)n repeats of both malignant and nonmalignant prostate cells in fixed paraffin-embedded tissue (PET) specimen from 36 case of Pca were determined by sequence analysis. Results: The repeats of polymorphic (CAG) n among normal men ranged from 11 to 29, and the most frequent repeat was 22(18. 69%), with 23(14. 02%), 24(10. 28%) and 21(10. 28%) being less frequent. The (CAG)n repeats of malignant prostate cells equaled to that of nonmalignant adjacent prostate tissue cells from the same PET specimen in all 36 Pca, and the (CAG)n repeats in 36 Pca which ranged from 16 to 22 were shorter than that in normal males significantly (P＜0. 05), while no significant difference in (CAG)n repeats among various grade of tumor's differentiation(well-differentiated, intermediate-differentiated and poor-differentiated) was found (P＞ 0. 05). Conclusion: The present study suggest that short hAR gene (CAG)n micro-satellite might be associated with the occurrence of Pca, but not with the differentiation of Pca.
