首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到19条相似文献,搜索用时 125 毫秒
1.
先天性双侧输精管缺如(congenital bilateral absence of the vas deferens,CBAVD)目前认为主要由囊性纤维化跨膜转导子(cystic fibrosis transmembrane conductance regulator,CFTR)基因变异导致,在欧美国家CFTR基因变异检测已经用于胚胎植入前遗传学诊断,以避免子代发生CBAVD或携带CFTR变异基因。但是该基因变异类型繁多,与种族密切相关,差异巨大。现将CFTR基因在CBAVD中的研究进展综述如下。  相似文献   

2.
宁晔  胡洪亮  李铮 《生殖与避孕》2011,31(3):186-191
囊性纤维化是一种常染色体隐性遗传疾病,由于囊性纤维化跨膜转导调节因子突变所致,该因子是一种环磷酸腺苷(c-AMP)调控的阴离子通道蛋白。囊性纤维化是一种累及全身的系统性疾病,主要累及呼吸系统、内分泌系统、消化系统、免疫系统、皮肤和泌尿生殖系统。在生殖系统中,本病突出表现为不育症,有超过96%的患者表现为先天性双侧输精管缺如。最近更多的研究表明囊性纤维化跨膜转导调节因子的突变不仅可以导致输精管发育缺陷,还可能影响精子发生及其功能等多个环节,降低患者的生育力。  相似文献   

3.
目的探讨先天性输精管缺如(CAVD)者的临床特点,分析囊性纤维跨膜转运调节因子(CFTR)国内外已知高频突变位点5T剪接变体(IVS8-5T)和F508位点遗传突变特征,旨在建立CAVD的诊治策略。方法收集41例CAVD病例临床资料,总结其分型、诊断和治疗特点,从21例患者血样中提取基因组DNA,利用聚合酶链反应(PCR)扩增5T和F508位点片段,并直接测序。结果 41例患者中20例双侧缺如患者,14例节段性缺如,7例单侧缺如。40例患者通过外科取精方式获取精子,1例取精失败患者睾丸组织病理为生精阻滞,总体取精成功率约97.6%(40/41);4例单侧缺如患者要求行对侧输精管-附睾吻合术或交叉吻合术,术后随访精液1~6个月无精子;12例取精后行卵胞质内单精子注射(ICSI),7例成功生育,2例正常妊娠中(4~8个月)。21例测序显示9例存在5T位点突变(42.9%),未见F508位点突变。结论 CAVD需综合查体、检验和超声等影像资料诊断;取精结合ICSI的辅助生殖技术(ART)是CAVD有效的治疗手段;汉族CAVD患者近半数存在5T剪接变体突变,未见白人高加索人存在的ΔF508del突变。  相似文献   

4.
1989年首次分离出与囊性纤维化病有关的基因,该基因常见的突变类型有△F509、G542X等10种,夫妇双方均携有可识别的囊性纤维化病基因突变者为高危者,在每次  相似文献   

5.
Y染色体基因微缺失与男性不育的关系   总被引:3,自引:0,他引:3  
史桂芝  徐小虎  陈宇  冯震  孟静  田丹  陶静 《生殖与避孕》2003,23(3):178-181,F003
目的 :探讨男性不育患者尤其是特发性无精子症、严重少精子症及双侧输精管缺如与 Y染色体基因 (无精子因子 ,AZF)微缺失的关系。方法 :对 97例男性不育患者及 2 0例正常男性采用多重聚合酶链反应法进行基因微缺失检测。结果 :36例特发性无精症患者中存在 3例缺失 ,占 8.33% ;1 4例双侧输精管缺如患者存在 2例缺失 ,占 1 4.2 9% ;2 7例严重少精症患者中存在 2例缺失 ,占 7.41 %。2 0例精子数正常的男性不育患者及 2 0例正常男性对照无 AZF缺失。缺失以 AZFa,AZFc区为主 ,AZFb区无缺失。结论 :Y染色体 AZF微缺失可能是导致男性特发性无精症、少精症的原因之一 ,双侧输精管缺如患者也存在 Y染色体的基因微缺失  相似文献   

6.
梅又文 《现代妇产科进展》2011,20(9):750-751,754
囊性纤维化跨膜转导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)是囊性纤维化(CF,cystic fibrosis)基因编码的cAMP依赖的氯离子通道。它在多种组织器官的上皮细胞均有表达,调节细胞的离子浓度和水分转运。近年研究发现,CF基因突变除可引起囊性纤维化症外,还与一系列的妇科疾病有着重要的关系。现就CFTR的功能及其与不孕、卵巢过度刺激综合征、输卵管积水及生殖道感染等的关系做一综述。  相似文献   

7.
目的:研究人精子囊性纤维化跨膜转导调节因子(cystic fibrosis transmembrane conductance regulator,CFTR)表达率与精子获能及顶体反应间的相关性。方法:通过间接免疫荧光染色法观察CFTR在人精子上的表达率,金霉素染色法评估精子获能及顶体反应。结果:CFTR定位在人精子赤道板上,随着CFTR表达率降低,精子获能率也随之降低,故CFTR表达率与人精子获能呈正相关(r=0.985,P0.01),而且精子顶体反应率也随之减少,因此CFTR表达率与人精子顶体反应呈正相关(r=0.979,P0.05)。结论:人精子CFTR表达率与精子获能及顶体反应呈正相关。  相似文献   

8.
目的:利用高通量测序(NGS)技术分析家族性Alport综合征(AS)的致病性突变及遗传方式,为咨询者提供准确的遗传咨询并给予产前诊断。方法:对3例家族性AS先证者进行致病性突变分析及家系验证,对遗传咨询者进行产前诊断。结果:3例先证者均发现AS致病基因COL4A5点突变,突变位点分别位于c2633G→A、c1769A→C、c1352G→A,经家系验证均为致病性突变。对3例咨询者胎儿DNA进行Sanger验证(第一代DNA测序技术),提示1例胎儿携带AS致病基因COL4A5的错义突变,2例未检测出致病性突变。结论:认识AS遗传方式的多样性和遗传特征,强调重视先证者的基因诊断及家系验证,确定遗传方式,建议行遗传咨询并给予生育指导。  相似文献   

9.
李圆  郭红燕  张曦  高妍   《实用妇产科杂志》2021,37(3):221-226
目的:探索携带胚系同源重组修复(HRR)基因突变的卵巢上皮性癌的临床特征、预后及家系特征。方法:选择2018年1月至2020年2月就诊于北京大学第三医院卵巢上皮性癌患者121例,采用二代测序技术对所有患者外周血HRR基因进行全外显子检测。分别对携带有害胚系HRR基因(致病性和可能致病性)突变的患者(有害突变组)和未携带HRR基因(包含良性、可能良性)突变的患者(未携带突变组)分析其临床特点、预后及个人/亲属肿瘤家族史。结果:121例卵巢上皮性癌患者HRR基因总突变率为29.8%(36/121),其中BRCA1占63%,RAD51D占13%,BRCA2占10%。有害突变组和未携带突变组的患者病理类型构成差异有统计学意义(P=0.018),有害突变组患者均为高级别浆液性癌(100%),未携带突变组高级别浆液性癌比例为72.2%(52/72)。有害突变组有5例(5/36)患者同时罹患其他原发恶性肿瘤,与未携带突变组(2/72)相比,差异有统计学意义(P=0.030)。有害突变组患者一级亲属罹患肿瘤阳性率69.4%(25/36)与未携带突变组31.9%(23/72)相比,差异有统计学意义(P<0.001)。有害突变组均为铂类敏感(100%),与未携带突变组(90.3%)铂类敏感相比差异无统计学意义(P=0.093)。有害突变组与未携带突变组发病年龄、分期、首发症状、无进展生存期比较差异均无统计学意义(P>0.05)。结论:卵巢上皮性癌患者特别是高级别浆液性癌患者应进行遗传咨询,重视个人及一级亲属肿瘤史采集。携带有害胚系HRR基因突变患者同时罹患其他恶性肿瘤风险高。对HRR基因的检测,有利于对患者进行精准治疗同时也有助于发现其亲属中的高危人群并早期干预、预防肿瘤发生。  相似文献   

10.
目的探讨双侧斜疝术后输精管道损伤相关梗阻性无精子症的手术策略。方法回顾性分析59例有双侧斜疝手术史的梗阻性无精子症患者的临床资料。结果根据术中探查情况行显微输精管吻合术、腹腔镜辅助的显微输精管吻合术、显微输精管附睾吻合术、交叉输精管吻合术。术中探查证实输精管损伤,伴或不伴附睾梗阻,14例无法行吻合手术,行取精手术;45例行显微重建手术,其中输精管吻合术30例,腹腔镜辅助的输精管吻合术12例,交叉输精管吻合术2例,右侧输精管附睾吻合术加左侧输精管吻合术1例。80.0%(36/45)的患者术后精液检查测到精子,31.1%(14/45)的患者术后自然妊娠。结论双侧斜疝术后输精管损伤相关梗阻性无精子症,损伤情况多样化,手术是有效的治疗方法,可根据个体情况选择合适的治疗的方式。  相似文献   

11.
Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had _F508 and p.L375F mutations. The two children were heterozygous for the _F508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling.  相似文献   

12.
OBJECTIVE: To determine the genotype of a triplet resulted from an IVF procedure, with discordant cystic fibrosis (CF) phenotype. DESIGN: Molecular diagnosis of CF. SETTING: Affected triplet followed at the CF Clinic Center of Children's Hospital Los Angeles was referred to Molecular Genetics Laboratory at Georgetown University Medical Center for comprehensive DNA analysis of the cystic fibrosis transmembrane regulator (CFTR) gene. PATIENT(S): Three affected children and the healthy parents with negative family history of CF. MAIN OUTCOME MEASURE(S): Temporal temperature gradient gel electrophoresis and direct DNA sequencing were used to detect and to identify the mutations. RESULT(S): The child with classic CF had DeltaF508 and R553X mutations. Two children with mild CF symptoms had DeltaF508 and R117C. The father carried two mutations, R553X and R117C. The mother is a carrier for DeltaF508. CONCLUSION(S): Mutational analysis of the CFTR gene should always be recommended to the infertile couples seeking for IVF. The CFTR mutation screening would be essential if the man has congenital bilateral absence of vas deferens (CBAVD) despite the negative family history of CF. Option of complete CFTR gene analysis at a cost of about 1,500-2,000 dollars should be made available if one mutation is found in the male partner with congenital bilateral absence of vas deferens.  相似文献   

13.
14.
Objective: To evaluate relationships between the phenotypic and genotypic characteristics of patients with congenital bilateral absence of the vas deferens (CBAVD).

Design: Retrospective study.

Setting: A university hospital urology–andrology department.

Patient(s): Forty-one men with CBAVD.

Intervention(s): CBAVD was diagnosed during surgical and/or ultrasound exploration of the vasa deferentia (VD) (n = 39), or on the basis of impalpable scrotal VD (n = 2).

Main Outcome Measure(s): History, clinical and seminal characteristics, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations including IVS-8 polyT analysis.

Result(s): A palpable scrotal vas deferens was present as a fibrous cord or nonpermeable duct in 13% of patients undergoing surgical exploration. Seminal vesicles were bilaterally absent in 28% of patients. No CFTR gene mutation or 5T allele was detected in 24.5% of the patients. Two CBAVD patients with renal agenesis carried a CFTR gene mutation (ΔF508/5T–9T and R117G/7T–9T). CBAVD patients who have both a semen volume of ≤1.0 mL and a semen pH of <7.0 have a significantly higher risk of severe CFTR gene mutation (OR = 9.12 [95% CI = 1.81–49.50]).

Conclusion(s): A palpable scrotal vas deferens was found in 13% of CBAVD patients. Semen volume of ≤1.0 mL and semen pH of <7.0 in CBAVD patients were associated with a higher risk of severe CFTR gene mutations. Patients with CBAVD and renal agenesis should be screened for CFTR gene mutations before assisted reproductive techniques are used.  相似文献   


15.
Molecular pathology of the CFTR locus in male infertility   总被引:3,自引:0,他引:3  
Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations on both alleles in approximately 80% of cases. Striking CFTR genotypic differences are observed in cystic fibrosis (CF) and in CBAVD. The 5T allele is a CBAVD mutation with incomplete penetrance. Recent evidence confirmed that a second polymorphic locus exists and is a major CFTR modifier. The development of minigene models have led to results suggesting that CFTR exon 9 is skipped in humans because of unusual suboptimal 5' splice sites. An extremely rare T3 allele has been reported and it has recently been confirmed that the T3 allele dramatically increases exon 9 skipping and should be considered as a 'CF' mutation. Routine testing for the most prevalent mutations in the CF Caucasian population will miss most CFTR gene alterations, which can be detected only through exhaustive scanning of CFTR sequences. Finally, a higher than expected frequency of CFTR mutations and/or polymorphisms is now found in a growing number of monosymptomatic disorders, which creates a dilemma for setting nosologic boundaries between CF and diseases related to CFTR.  相似文献   

16.
OBJECTIVE: The objective was to compare the results of a complete chromosomal, genetic and histological investigation in 13 azoospermic men with the results of the intracytoplasmic sperm injection (ICSI) procedure. STUDY DESIGN: Peripheral blood samples were used for the measurement of follicle-stimulating hormone (FSH) levels, chromosomal analysis, microdeletions in the azoospermia factor (AZF) region of the Y chromosome and cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis. Testicular tissue was used for histological scoring and cytogenetic evaluation. RESULTS: Peripheral blood cytogenetic analysis revealed a normal male karyotype in all cases. Chromosomal analysis from testicular tissue revealed a mosaicism for the terminal deletion of chromosome 22 with a breakpoint site at 22q13 in one patient with congenital bilateral absence of the vas deferens (CBAVD). Deletions in the AZFa, ATFb, and AZFc regions were not detected. The CFTR mutational analysis showed normal results in all patients. CONCLUSIONS: Cytogenetic evaluation of testicular tissue should be performed in non-obstructive and obstructive azoospermic patients as well as in patients with multiple failed IVF and recurrent spontaneous abortion.  相似文献   

17.
Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disorder of Caucasians. Most of the men with CF (>95%) have congenital bilateral absence of vas deferens (CBAVD), which makes them infertile. However, with advances in assisted reproductive techniques, it is now potentially possible for these patients to father their own biological children. Spermatozoa may be retrieved from either the epididymis or the testes and combined in vitro with oocytes retrieved from the female partner. Epididymal sperm may be collected either by microsurgical or percutaneous epididymal sperm aspiration. It is important to remember that when assisted reproductive techniques are used for such patients, there is the inevitability of transmitting a mutated cystic fibrosis transmembrane (CFTR) gene, which increases the risk of producing an affected child and can have serious long-term implications. It is therefore mandatory to offer genetic counselling to the men with CF (and CBAVD) and their partners before carrying out assisted reproductive techniques. In the literature, there are a very few studies on fertility treatment of these men. However, even though the reported number of live births in men with CF is small, given the current technology, there are definitely more opportunities for these men to become parents.  相似文献   

18.
We report on a couple who delivered three healthy babies in three deliveries after cryo-TESE combined with ICSI. The male patient suffers from congenital bilateral absence of the vas deferens (CBAVD). METHODS: Three testicular sperm extraction (TESE) operations were performed in the male accompanied by six stimulated ICSI cycles in the female patient. Altogether, 59 oocytes were retrieved. Fifty-one oocytes (86%) were in metaphase II and 38 fertilized regularly (75%). Sixteen embryos, in the 3-6 cell stage, were transferred to the uterus. RESULTS: The first, fifth and sixth embryo transfers of fresh embryos led to intact intrauterine singleton pregnancies. The pregnancy and implantation rates with fresh embryos were 50% and 20%, respectively. CONCLUSIONS: TESE or microscopic epididymal sperm aspiration in patients with CBAVD in combination with a healthy female partner is likely to yield very good results in ICSI/ET. As azoospermia can be caused by cystic fibrosis and cystic fibrous transmembrane conductance regulator gene mutation range varies dramatically in patients of different ethnic groups.  相似文献   

19.
Cystic fibrosis is a life-threatening disease. Only recently has the prognosis improved. In the male patient there is an almost invariable absence or maldevelopment of the vas deferens, creating a situation of obstructive azoospermia. Consequently, their fertility potential has been considered nonexistent. Having gained experience in microscopic epididymal sperm aspiration coupled with the advanced reproductive technologies for the treatment of congenital absence of the vasa, we sought to extend this treatment option to the male cystic fibrosis population. An Indian male with clinically evident and genetically confirmed cystic fibrosis underwent microscopic retrieval of epididymal sperm. The anatomy of the epididymis and the quality of sperm obtained were similar to those patients with congenital absence of the vas deferens. After appropriate spousal genetic testing, superovulation, and transvaginal oocyte retrieval, in vitro insemination of sperm was performed. Fifty percent of the oocytes were subjected to partial zona dissection and a single embryo resulted. Subsequent to transfer, no conception was realized but the effort expanded the clinical usefulness of microscopic epididymal sperm aspiration. This should open up an avenue of treatment for couples in whom only the most dire predictions for fertility have been made to date.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号