HOXA13Gene Mutation Of The Patients With Mullerian Duct Abnormalities

Background Mullerian duct abnormalities (MDAs) mainly manifested in the female reproductive tract abnormalities with or not associated with urinary tract, bones and other multi-system malformations.The development of reproductive organs were originated from the mullerian.The two mullerian formed fully integrated uterus vaginal tube from the beginning of the development is a very complex process,including cell differentiation, integration and regulation of certain genes, affected by the external environment and the impact of maternal hormone levels also.One link in the exception will lead to the reproductive organs to a different degree of development of abnormal phenotypes.Congenital anomalies of the female reproductive organs’phenotype were performance varied,the classification is very complex.According to the extent of mullerian development and degree of integration, can be divided into congenital absence of uterus and vagina (CAUV), primordial uterus, infantile uterus, uterine unicornis, uterus bicornis, uterus didelphys and uterine septum, etc.The hazards of primary or secondary amenorrhea, infertility, repeated miscarriage, premature birth and others,wich caused by MDAs,have seriously affected women’mental and physical health, so, more and more domestic and foreign scholars pay attention on it.Although domestic and foreign scholars more research MDAs genetic in the genetics, HOX genes become important candidate gene in mullerian development as the process of formation in the embryonic.HOXA13as a member of HOX gene family,located in the kinds of A cluster5’, including an intron and two exons.The relevant scholars believe that HOXA13expression in the vaginal jodan, and the study found that HOXA13has played an important role in the development of the uterus and other reproductive organs.Mortlock et al [11have detected family related gene with similar deformities hand a foot genital syndrome (hand-foot-genital syndrome, HGFS),found mutations in the HOXA13gene indeed.The mutations were manifested:there are two mutations in the first exon;there is a mutation in the second exon, but they were nonsense mutations.In the mouse study found that the mullerian didn’t developed when knockout HOXA13gene, the second exon coding region’mutations can lead to HGFS, more than five disease family had found its mutation at present.No mutation was found in the coding region of the second exon of HOXA13gene in mutation screening as followed domestic and foreign scholars’study.so, we expand the sample sizes further screening for mutations in the coding region of the second exon of HOXA13gene,meanwhile studied associativity analyzing for MDAs.Objective To analysis whether or not the second exon of HOXA13gene mutation existed in the patients with MDAs.Methods348patients with MDAs were collected(including17patients with CAV,9patients with primordial uterus,6patients with infantile uterus,110patients with unicornous uterus or rudimentary horn uteru,72patients with uterus bicornis,70patients with uterus septus and64patients with uterine duplication with cervix duplication or double vagina). Extract in patients with peripheral venous blood after the initial diagnosis, separated and extract DNA,the second exon of HOXA13gene of these patients were amplified by PCR and direct sequenced, then Compared with the normal human sequence in the NCBI database, to see whether or not mutation existed.Result No mutation was found in the sequencing of the second exon of HOXA13gene of the patients we collected.Conclusion The mutation of the second exon of HOXA13gene may not be the correlated etiological factor in patients with mullerian duct abnormalities.