EMX2基因突變與中國河北地區(qū)女性苗勒氏管發(fā)育異常的相關性
發(fā)布時間：2018-08-22 19:15
【摘要】：目的:通過提取中國河北地區(qū)女性苗勒氏管發(fā)育異常患者全基因組DNA,篩查EMX2基因3個外顯子及相應側翼序列的突變情況,探討中國河北地區(qū)女性苗勒氏管發(fā)育異常與EMX2基因編碼區(qū)變異的相關性。方法:依據(jù)美國生育協(xié)會(American Fertility Society,AFS)發(fā)布的美國生殖醫(yī)學協(xié)會分類系統(tǒng)標準,納入97名苗勒氏管發(fā)育異常的中國女性患者為實驗組,110名無苗勒氏管發(fā)育異常,因異位妊娠就診,曾經(jīng)正常妊娠的中國女性患者為對照組。苗勒氏管發(fā)育異�？纱嬖诙喾N臨床表現(xiàn),本實驗組包括MRKH綜合征(先天性無子宮無陰道)患者32例、始基子宮合并無陰道患者3例、雙子宮雙宮頸合并完全性陰道縱隔患者1例、雙子宮雙/單宮頸不合并陰道縱隔患者4例、縱隔子宮(完全或不完全)伴陰道縱隔患者12例,縱隔子宮不伴陰道縱隔患者11例,雙角子宮患者4例,單角子宮合并/不合并殘角子宮患者16例,弓形子宮患者2例,陰道斜隔綜合征(表現(xiàn)為雙子宮雙宮頸,陰道斜隔完全或不完全地閉鎖一側陰道,斜隔同側的腎臟缺如,(oblique vaginal septum syndrome,OVSS)患者6例,陰道上段閉鎖合并/不合并宮頸發(fā)育不良伴有功能內(nèi)膜子宮的患者4例,陰道橫隔患者2例,且均經(jīng)陰道B型超聲、子宮輸卵管造影、宮腔鏡或腹腔鏡檢查確診。實驗組及對照組患者均具有正常染色體核型(46,XX),女性第二性征發(fā)育正常。分別取實驗組與對照組患者外周血淋巴細胞,提取全基因組DNA,應用聚合酶鏈式反應(PCR)擴增EMX2基因的3個外顯子及相應側翼序列。并對外顯子及側翼序列的PCR產(chǎn)物直接測序。將結果與NCBI列出的正常序列進行比對,分析EMX2基因的3個外顯子是否存在堿基改變、缺失或插入。結果:1與NCBI列出的正常序列進行比對,本實驗未發(fā)現(xiàn)97例實驗組患者和110例對照組患者EMX2基因的3個外顯子及相應側翼序列存在基因突變。2統(tǒng)計臨床病例資料顯示病例組中苗勒氏管發(fā)育異常合并其他系統(tǒng)畸形的患者共24例(24/97,24.74%),合并兩個及以上系統(tǒng)畸形的患者為6例(6/97,6.19%)。畸形類型包括先天性脊柱側彎5例(5/97,5.15%),先天性脊柱椎體發(fā)育不良1例(1/97,1.03%),脊柱裂1例(1/97,1.03%),先天性肋骨發(fā)育異常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%),單腎缺如12例(12/97,12.37%),腎異位2例(2/97,2.06%),先天性膀胱頸狹窄1例(1/97,1.03%),先天性心臟病2例(2/97,2.06%),先天性肛門閉鎖1例(1/97,1.03%),先天性梅克爾憩室1例(1/97,1.03%),先天性腹股溝斜疝2例(2/97,2.06%)。所有畸形中泌尿系統(tǒng)畸形占42.86%,骨骼系統(tǒng)畸形占40.00%,心臟畸形占5.71%,消化系統(tǒng)畸形占5.71%,其他畸形占5.71%。結論:1本研究未提示EMX2基因編碼區(qū)突變與中國河北地區(qū)苗勒氏管發(fā)育異常之間存在相關性,但因樣本量有限我們?nèi)孕柽M行更深入的研究。2苗勒氏管發(fā)育異常患者常合并其他系統(tǒng)異常。
[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.
【學位授予單位】：河北醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：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.
【學位授予單位】：河北醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R711.1
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