摘要
X和Y染色体的数目异常,可导致多种性发育异常疾病,常见疾病有特纳氏综合征和克兰菲尔特综合征。特纳综合征的经典核型为46,XO,以矮小和原发闭经为突出表现。克兰菲尔特综合征的经典核型为47,XXY,以小睾丸和生精障碍为突出表现。常染色体中含有很多基因(如SOX9、DMRT1),它们剂量依赖性地调控性腺的形成和发育。因此,包含这些基因的常染色体出现大片段丢失或重复,也可导致性发育异常疾病。
The number of X and Y chromosome abnormalities, which can lead to a variety of sexual development disorders, are the common disease with Turner syndrome and Crane Filter syndrome. Classic Turner syndrome karyotype was 46,XO, with short and primary amenorrhea for outstanding performance. The classical karyotype of Crane Filter＇s syndrome was 47, XXY, and the expression of the small testis and spermatogenesis. Many genes （e.g. SOX9, DMRT1） are contained in the regular chromosome, and they are used to regulate the formation and development of the gonad. Therefore, the large fragments of the genes that contain these genes are missing or duplicated, and can lead to abnormal development of the disease.
出处
《药品评价》
CAS
2016年第3期39-42,共4页
Drug Evaluation
