摘要
目的本研究对SBDS基因(Shwachman-Bodian-Diamond syndrome gene)c.183184delTAinsCT和c.258+2T>C复合杂合变异导致的Shwachman-Diamond综合征(Shwachman-Diamond syndrome,SDS)家系的1位中期妊娠妇女行产前分子诊断,从而预防SDS患儿的出生。方法孕妇于18孕周在B超引导下行羊膜腔穿刺,抽取羊水10mL,提取羊水细胞基因组DNA。选用17个多态性STR位点,包括D13S317、D7S820、D18S51等,排除母源污染。在此基础上,对SBDS基因2-4号外显子进行扩增,纯化后的PCR产物基因SBDS基因2号外显子正、反向测序。结果该胎儿SBDS基因2号外显子测序结果显示胎儿只携带了与母亲相同的SBDS基因变异位点,未携带与父亲相同的SBDS基因变异位点。结论对SBDS基因而言,该家系的待测胎儿为SBDS基因c.183184delTAinsCT杂合变异携带者。
Objective:To report the prenatal molecular diagnosis for one gestational woman in a family with Shwachman-Diamond syndrome(SDS)caused by c.183184delTAinsCT and c.258+2T>C compound heterozygous mutation of SBDS gene.Method:DNA of the fetuse was extracted from amniotic fluid at the 18 weeks of gestation.After maternal cell contamination was excluded using seventenen polymorphic STR sites,D13S317、D7S820、D18S51 included,exon 2-4 of SBDS gene were amplified and direct sequencing of exon2 containing the potential mutations was performed.Results:Sequencing analysis showed that the fetus only had the same SBDS mutation from the gravida.Conclusion:This fetus was dignosed to be with SBDS c.183184delTAinsCT heterozygous mutation.A normal phenotype has been confirmed by clinical manifestation and biochemical tests on the new born baby girl.
作者
徐云芝
项延包
徐晨阳
李焕铮
XU Yun-zhi;XIANG Yan-bao;XU Chenyang;LI Huan-zheng(The Central Hospital of Wenzhou,32500,China)
出处
《中国优生与遗传杂志》
2020年第10期1231-1234,共4页
Chinese Journal of Birth Health & Heredity
基金
浙江省自然科学基金LQ16H200001
浙江省卫生医药科技项目2015KYB363
温州市重大科技项目ZS2017004。
