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目的应用Sanger恻序对软骨发育不全(Achondroplasia,ACH)家系患者进行FGFR3基因c.1138G>A突变检测,建立ACH的基因诊断方案,为ACH家系进行产前诊断及遗传咨询提供有价值的资料。方法收集5个疑似ACH家系的先证者及其父母外周血,提取DNA,采用Sanger测序技术进行FGFR3基因c.1138G>A检测;对ACH高危孕妇进行绒毛、羊水穿刺,进行产前基因诊断;所有绒毛或羊水标本均进行母血污染鉴定。结果 1个曾生育ACH患儿家系,父母基因型正常,绒毛检测结果显示未见异常;2个父源性FGFR3基因c.1138G>A突变家系,羊水穿刺结果显示胎儿为FGFR3基因c.1138G>A突变,超声结果提示四肢短小、胸廓狭窄,为软骨发育不全患者;1个母源性FGFR3基因c.1138G>A突变家系,超声提示胎儿四肢短小,疑似软骨发育不全患者,脐血检测结果胎儿基因型为c.1138G>A突变,选择引产,3个月后再次妊娠,早期绒毛检测,胎儿为c.1138G>A突变,早期超声未见异常,自行继续妊娠,中晚期超声提示胎儿股骨偏小4周,决定引产;1个母源性FGFR3基因c.1138G>A突变家系,绒毛检测胎儿基因型未见异常;2例基因型正常胎儿,孕期超声检查未发现异常,随访至出生后1年,表型正常,均为健康个体。结论建立FGFR3基因c.1138G>A位点诊断体系,可为ACH患者和有检测需求的人群提供技术手段和遗传咨询依据,预防出生缺陷的发生。
Objective To detect the gene mutation of c.1138G> A of FGFR3 gene in pedigree of achondroplasia (ACH) by Sanger 恻 sequence and to establish a genetic diagnosis program of ACH to provide valuable information for prenatal diagnosis and genetic counseling of ACH pedigrees. Methods Peripheral blood samples from 5 probands with suspected ACH pedigrees and their parents were collected and DNA was extracted. Sanger sequencing was used to detect c.1138G> A of FGFR3 gene. Chorionic villus and amniocentesis were performed on high risk pregnant women with ACH for prenatal diagnosis. All villus or amniotic fluid samples were identified maternal blood contamination. Results A pedigree with ACH children had a normal genotype of parents and no abnormality of villus test results. The results of amniotic fluid perfusion showed that the two fetuses were c.1138G> A mutation of FGFR3 gene, A mutation, ultrasound results suggest short limbs, thoracic stenosis, as a patient with achondroplasia; a maternal FGFR3 gene c.1138G> A mutation in the pedigree, ultrasound prompts the fetus with short limbs, suspected achondroplasia, cord blood test results fetus Genotype c.1138G> A mutation, select induction of labor, 3 months after pregnancy again, early villi detection, fetal c.1138G> A mutation, no abnormal early ultrasound, to continue their pregnancy, ultrasound in late fetal femur Small for 4 weeks, decided to induce labor; a maternal FGFR3 gene c.1138G> A mutation in the family, villi detected fetal genotype no abnormalities; 2 cases of normal fetal genital ultrasound during pregnancy was not found abnormalities, follow-up to postnatal 1 Years, normal phenotype, are healthy individuals. Conclusion The establishment of diagnostic system of c.1138G> A locus of FGFR3 gene can provide technical means and genetic counseling for ACH patients and people with testing needs to prevent birth defects.