妇产科疾病与染色体结构畸变重排断裂点分布的研究(附142例报告)

Study on the chromosome-related obstetrical and gynecological diseases in 142 cases, and the balanced chromosomal structural aberrations of the rearranged breakpoint distributions.

目的：探讨与妇产科相关染色体疾病的染色体平衡结构畸变重排断裂声、分布规律及可能机制。方法：对妇产科疾病142例检出的染色体平衡结构畸变重排断裂点在各染色体、不同类型G带和脆性位卢、上的分布频率与预期值（EV）进行比较。结果：重排断裂除较多累及近端着丝粒染色体外，7、8号染色体受累频率显著性偏高。2、4、5、6号染色体不仅断裂点的分布频率显著性偏低，且有关平衡结构畸变个体的表型异常率显著性增高。重排断裂在G阴性带分布较多，在G阳性带较少，在脆性位点与EV差异无显著性。结论：与妇产科相关的染色体疾病平衡结构畸变的重排断裂声、在不同染色体，不同G显带上的分布是非随机的，其机理既涉及染色体的内在分子生物学特征，也与选择作用相联系。

To examine the breakpoint distribution of balanced chromosomal structural aberrations in their related obstetrical and gynecological diseases of 142 cases. Methods: Chromosomal relative lengths were used as the expected values(EV) of breakages in different chromosomes,and the rates of the number of G-positive band.s,G-negative bands and fragile sites to the band number in one haploid were used as EV of breakages occuring in those positions. Then, the distributions of rearranged breakpoints from balanced structural chromosomal aberrations found in 142 obstetrical and gynecological patients were analyzed. Meantime,the phenotypic changes in the Individuals with structural abnormalities related to the chromosomes in which fewer breakages were evaluated. Results: Besides acrocentric chromosomes,chromosome 7 and 8 had more breakages than that of the EV of breakages(p <0. 05 ) , while chromosome 2 , 4 , 5 and 6 had fewer breakages(p<0. 05 ). The phenotypic changes in the individuals with the balanced structural aberrations related to the chromosome in which fewer breakages were more often found (P<0. 05 ). There were more breakages occured in G-negative bands than that of EV breakages and fewer in G-positive band too,and not significantly different in fragile sites from EV of breakages. Conclusions: Breakpoints in rearranged chromosomal abnormalities related to obstetrical and gynecological diseases a not randomly distrubuted in different chromosomes and different types of G-bands. Such distributions may associate with intrinsical molecular biological characteristics and option action of certain chromosomes.