EMX2基因突变与中国河北地区女性苗勒氏管发育异常的相关性
发布时间：2018-08-22 19:15
【摘要】：目的:通过提取中国河北地区女性苗勒氏管发育异常患者全基因组DNA,筛查EMX2基因3个外显子及相应侧翼序列的突变情况,探讨中国河北地区女性苗勒氏管发育异常与EMX2基因编码区变异的相关性。方法:依据美国生育协会(American Fertility Society,AFS)发布的美国生殖医学协会分类系统标准,纳入97名苗勒氏管发育异常的中国女性患者为实验组,110名无苗勒氏管发育异常,因异位妊娠就诊,曾经正常妊娠的中国女性患者为对照组。苗勒氏管发育异常可存在多种临床表现,本实验组包括MRKH综合征(先天性无子宫无阴道)患者32例、始基子宫合并无阴道患者3例、双子宫双宫颈合并完全性阴道纵隔患者1例、双子宫双/单宫颈不合并阴道纵隔患者4例、纵隔子宫(完全或不完全)伴阴道纵隔患者12例,纵隔子宫不伴阴道纵隔患者11例,双角子宫患者4例,单角子宫合并/不合并残角子宫患者16例,弓形子宫患者2例,阴道斜隔综合征(表现为双子宫双宫颈,阴道斜隔完全或不完全地闭锁一侧阴道,斜隔同侧的肾脏缺如,(oblique vaginal septum syndrome,OVSS)患者6例,阴道上段闭锁合并/不合并宫颈发育不良伴有功能内膜子宫的患者4例,阴道横隔患者2例,且均经阴道B型超声、子宫输卵管造影、宫腔镜或腹腔镜检查确诊。实验组及对照组患者均具有正常染色体核型(46,XX),女性第二性征发育正常。分别取实验组与对照组患者外周血淋巴细胞,提取全基因组DNA,应用聚合酶链式反应(PCR)扩增EMX2基因的3个外显子及相应侧翼序列。并对外显子及侧翼序列的PCR产物直接测序。将结果与NCBI列出的正常序列进行比对,分析EMX2基因的3个外显子是否存在碱基改变、缺失或插入。结果:1与NCBI列出的正常序列进行比对,本实验未发现97例实验组患者和110例对照组患者EMX2基因的3个外显子及相应侧翼序列存在基因突变。2统计临床病例资料显示病例组中苗勒氏管发育异常合并其他系统畸形的患者共24例(24/97,24.74%),合并两个及以上系统畸形的患者为6例(6/97,6.19%)。畸形类型包括先天性脊柱侧弯5例(5/97,5.15%),先天性脊柱椎体发育不良1例(1/97,1.03%),脊柱裂1例(1/97,1.03%),先天性肋骨发育异常4例(4/97,4.12%),先天性四肢畸形/多指(趾)/少指(趾)3例(3/97,3.09%),单肾缺如12例(12/97,12.37%),肾异位2例(2/97,2.06%),先天性膀胱颈狭窄1例(1/97,1.03%),先天性心脏病2例(2/97,2.06%),先天性肛门闭锁1例(1/97,1.03%),先天性梅克尔憩室1例(1/97,1.03%),先天性腹股沟斜疝2例(2/97,2.06%)。所有畸形中泌尿系统畸形占42.86%,骨骼系统畸形占40.00%,心脏畸形占5.71%,消化系统畸形占5.71%,其他畸形占5.71%。结论:1本研究未提示EMX2基因编码区突变与中国河北地区苗勒氏管发育异常之间存在相关性,但因样本量有限我们仍需进行更深入的研究。2苗勒氏管发育异常患者常合并其他系统异常。
[Abstract]:Objective: to screen the mutations of three exons and corresponding flanking sequences of EMX2 gene by extracting the whole genomic DNA from female patients with abnormal development of Miulle's tube in Hebei area of China. To investigate the correlation between the abnormal development of Mullerian tube and the variation of EMX2 gene coding region in Hebei women. Methods: according to the classification system of American Reproductive Medicine Association published by (American Fertility Society of America, 97 Chinese female patients with abnormal development of Muller's canal were selected as experimental group, 110 cases without abnormal development of Muller's canal were treated for ectopic pregnancy. Chinese women with normal pregnancy served as the control group. There were many clinical manifestations of abnormal development of Muller's canal. The experimental group included 32 patients with MRKH syndrome (congenital absence of uterus and no vagina), 3 patients with primary uterus and without vagina. There were 1 case of double uterus and double cervix with complete vaginal mediastinum, 4 cases of double uterus / single cervix without vaginal mediastinum, 12 cases of mediastinal uterus (complete or incomplete) with vaginal mediastinum, 11 cases of mediastinal uterus without vaginal mediastinum. There were 4 cases of bigonal uterus, 16 cases of monogonium with or without residual uterus, 2 cases of arcuate uterus, and 2 cases of vaginal obliquity syndrome (double cervix of uterus, complete or incomplete atresia of vaginal septum on one side of vaginal septum). There were 6 cases of, (oblique vaginal septum syndromesis-OVSS, 4 cases of upper vaginal atresia with or without dysplasia of cervix and 2 cases of vaginal septum. All patients underwent transvaginal B-mode ultrasound and hysterosalpingography. Hysteroscopy or laparoscopy was confirmed. The patients in the experimental group and the control group all had normal karyotype (46 X), and the second sexual sign of female developed normally. Three exons of EMX2 gene and corresponding flanking sequences were amplified by polymerase chain reaction (PCR) from peripheral blood lymphocytes of patients in experimental group and control group. The PCR products of exon and flanking sequence were sequenced directly. The results were compared with the normal sequences listed by NCBI to analyze whether the three exons of EMX2 gene had base changes, deletions or insertions. Result: 1 aligns with the normal sequence listed by NCBI, No mutation of 3 exons and corresponding flanking sequences of EMX2 gene was found in 97 patients in experimental group and 110 patients in control group. Statistical data of clinical cases showed that the case group had abnormal development of Muller's canal with others. There were 24 patients (24 / 97 / 24. 74%) with system malformation and 6 (6 / 97 / 6. 19%) patients with two or more system malformations. The types of deformity included congenital scoliosis in 5 cases (5 / 97 / 5.15%), congenital spinal dysplasia in 1 case (1 / 971.03%), spina bifida in 1 case (1 / 971.03%), congenital rib dysplasia in 4 cases (4 / 97 / 4.12%), congenital extremity deformity / multi-finger (toe) / little finger (toe) in 3 cases (3 / 97%), mononephric deformity in 3 cases (3 / 97%). 12 cases were absent (12 / 97 / 12.37%), 2 cases were renal ectopic (2 / 972.06%), 1 case was congenital bladder neck stenosis (1 / 977.03%), 2 cases were congenital heart disease (2 / 972.06%), 1 case was congenital anal atresia (1 / 971.03%), 1 case was congenital Meckel's diverticulum (1 / 97 / 1.03%), 2 cases were congenital inguinal hernia (2 / 970.06%). Of all the deformities, 42.86 were urinary system malformations, 40.00th were skeletal system deformities, 5.71 were cardiac malformations, 5.71 were digestive system malformations, and 5.71 were other deformities. Conclusion this study does not suggest that there is a correlation between mutations in the coding region of EMX2 gene and abnormal development of the Muller's tube in Hebei, China. However, due to the limited sample size, we still need to do a more in-depth study of .2 patients with Maller's canal dysplasia often associated with other system abnormalities.
【学位授予单位】：河北医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R711.1
[Abstract]:Objective: to screen the mutations of three exons and corresponding flanking sequences of EMX2 gene by extracting the whole genomic DNA from female patients with abnormal development of Miulle's tube in Hebei area of China. To investigate the correlation between the abnormal development of Mullerian tube and the variation of EMX2 gene coding region in Hebei women. Methods: according to the classification system of American Reproductive Medicine Association published by (American Fertility Society of America, 97 Chinese female patients with abnormal development of Muller's canal were selected as experimental group, 110 cases without abnormal development of Muller's canal were treated for ectopic pregnancy. Chinese women with normal pregnancy served as the control group. There were many clinical manifestations of abnormal development of Muller's canal. The experimental group included 32 patients with MRKH syndrome (congenital absence of uterus and no vagina), 3 patients with primary uterus and without vagina. There were 1 case of double uterus and double cervix with complete vaginal mediastinum, 4 cases of double uterus / single cervix without vaginal mediastinum, 12 cases of mediastinal uterus (complete or incomplete) with vaginal mediastinum, 11 cases of mediastinal uterus without vaginal mediastinum. There were 4 cases of bigonal uterus, 16 cases of monogonium with or without residual uterus, 2 cases of arcuate uterus, and 2 cases of vaginal obliquity syndrome (double cervix of uterus, complete or incomplete atresia of vaginal septum on one side of vaginal septum). There were 6 cases of, (oblique vaginal septum syndromesis-OVSS, 4 cases of upper vaginal atresia with or without dysplasia of cervix and 2 cases of vaginal septum. All patients underwent transvaginal B-mode ultrasound and hysterosalpingography. Hysteroscopy or laparoscopy was confirmed. The patients in the experimental group and the control group all had normal karyotype (46 X), and the second sexual sign of female developed normally. Three exons of EMX2 gene and corresponding flanking sequences were amplified by polymerase chain reaction (PCR) from peripheral blood lymphocytes of patients in experimental group and control group. The PCR products of exon and flanking sequence were sequenced directly. The results were compared with the normal sequences listed by NCBI to analyze whether the three exons of EMX2 gene had base changes, deletions or insertions. Result: 1 aligns with the normal sequence listed by NCBI, No mutation of 3 exons and corresponding flanking sequences of EMX2 gene was found in 97 patients in experimental group and 110 patients in control group. Statistical data of clinical cases showed that the case group had abnormal development of Muller's canal with others. There were 24 patients (24 / 97 / 24. 74%) with system malformation and 6 (6 / 97 / 6. 19%) patients with two or more system malformations. The types of deformity included congenital scoliosis in 5 cases (5 / 97 / 5.15%), congenital spinal dysplasia in 1 case (1 / 971.03%), spina bifida in 1 case (1 / 971.03%), congenital rib dysplasia in 4 cases (4 / 97 / 4.12%), congenital extremity deformity / multi-finger (toe) / little finger (toe) in 3 cases (3 / 97%), mononephric deformity in 3 cases (3 / 97%). 12 cases were absent (12 / 97 / 12.37%), 2 cases were renal ectopic (2 / 972.06%), 1 case was congenital bladder neck stenosis (1 / 977.03%), 2 cases were congenital heart disease (2 / 972.06%), 1 case was congenital anal atresia (1 / 971.03%), 1 case was congenital Meckel's diverticulum (1 / 97 / 1.03%), 2 cases were congenital inguinal hernia (2 / 970.06%). Of all the deformities, 42.86 were urinary system malformations, 40.00th were skeletal system deformities, 5.71 were cardiac malformations, 5.71 were digestive system malformations, and 5.71 were other deformities. Conclusion this study does not suggest that there is a correlation between mutations in the coding region of EMX2 gene and abnormal development of the Muller's tube in Hebei, China. However, due to the limited sample size, we still need to do a more in-depth study of .2 patients with Maller's canal dysplasia often associated with other system abnormalities.
【学位授予单位】：河北医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R711.1
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