Y染色体异染色质区变异对表型和生育的影响  

Effects of variation of the Y chromosome heterochromatic regions on phenotype and fertility

作　　者：刘京昇[1] 赵静[1] 郭淼[1] 李永芳[1] 李效良[1] 齐冰[1] 宗传龙[1] 

机构地区：[1]泰山医学院生物科学学院,山东泰安271016

出　　处：《中国现代医学杂志》2011年第20期2396-2398,2402,共4页China Journal of Modern Medicine

摘　　要：目的探讨Y染色体异染色质区变异对表型、生育异常影响的遗传效应及在遗传咨询和生育指导中应采取的策略。方法对不良孕产患者进行细胞遗传学检测,并对有Y染色体异染色质区变异者的临床资料进行统计学处理和分析。结果在Y qh+和Y qh-群体中,表型正常的个体频率分别为81.40%和85.60%,表型异常的频率较低,分别为18.60%和14.40%,表型异常主要涉及生殖系统异常和智力低下,Y qh-导致生殖系统异常频率高于Y qh+,但导致智力低下频率低于Y qh+。在对生育影响中,Y qh+个体主要是导致流产,其频率为50.64%,其次是不孕不育,频率为27.81%;Y qh-个体主要导致不孕不育,其频率为46.77%,明显高于Y qh+,致流产频率是41.13%,导致子女异常和死胎的频率较低。结论 Y qh+和Y qh-个体大多表型正常,少数表型异常,其主要表现为生殖系统异常和智力低下,其他异常频率低,临床症状涉及面广。Y qh+和Y qh-对生育的遗传效应主要是导致流产和不孕不育,其次是导致子女异常和死胎。提示对有不良孕产、已生育异常子女和有表型异常的个体应重视对Y qh+和Y qh-的检测和分析,对有变异者建议其配偶妊娠时做产前诊断。【Objectives】 To explore the genetic effects on phenotype and reproductive abnormalities caused by variation of the Y chromosome heterochromatic regions and to explore the strategy should be taken in the genetic counseling and reproductive guidance.【Methods】 Cytogenetic testing was taken in patients with adverse pregnancy and the clinical data of whom had the variation of Y chromosome heterochromatic regions was processed and analyzed statistically.【Results】 Among Yqh＋ and Yqh-groups,the frequency of individuals with normal phenotype was 81.40% and 85.60% respectively while the frequency of individuals with abnormal phenotype was lower,namely 18.60% and 14.40% respectively.Phenotype abnormality mainly included reproductive system abnormality and mental retardation.The frequency of reproductive system abnormality caused by Yqh-was higher than that of Yqh＋,while it was converse in mental retardation.In regard to fertility,individuals with Yqh＋ mainly lead to abortion（50.64%） and the second was infertility（27.81%）.Individual with Yqh-mainly caused infertility with the frequency of 46.77%,which was higher than the Yqh＋ significantly.The second it caused was abortion with the frequency of 41.13% and it resulted in abnormal children and stillborn children with lower frequency.【Conclusions】 Most individuals with Yqh＋ and Yqh-have normal phenotype and a small number of people have abnormal phenotype which are mainly reproductive system abnormality and mental retardation.Other abnormalities have low frequencies and cover a wide range of clinical symptoms.Genetic effects of Yqh＋ and Yqh-on reproduction are abortion and infertility mainly,followed by abnormal children and stillborn children.It＇s important for those who had adverse pregnancy,bad motherhood or abnormal phenotype to pay attention to Yqh＋ and Yqh-detection and analysis.We suggested that those whose husband has such variation should have the prenatal diagnosis of pregnancy.

关 键 词：Y染色体 异染色质区变异 表型 不良孕产 

分 类 号：K596.1[历史地理—历史学]