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《中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会论文汇编》 2016年
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NGS of a rare asphyxiating thoracic dysplasia type 3 pedigree and rapid prenatal gene diagnosis of a high risk fetus

XIE Jie  GUO Dongwei  JIANG Yu  FANG Qun  JIANG Weiying  PAN Jingxin  GUO Yibin  
【摘要】:Objective To reveal molecular genetic mechanism of a couple with normal phenotype but induce labor a thoracostenosis and phocomelia fetus. So that we can make good foundations of PGD for future high risk fetus. Method Because of no the 1 st aborted fetus‘ sample, we use parents‘ DNA to do whole-exome s equencing. Then the results were analyzed according to inheritance patterns, ultrasound results o f fetus, clinical symptoms, and more than forty common gene of bone diseases to select some ca ndidate mutations that we use Sanger sequence to verify them. Novel mutations were evaluated f or their potential pathogenecity using the SIFT, Poly Phen-2 algorithms, Provean and conservativ e analysis among more than 10 species. On the basic of determined etiology, we collected the a mniotic fluid from the 18 th gestational week. Amplification of relevant exons by PCR and bi-directi onal sequence. Result(1) Candidate gene from father: LEPRE1(c.1057 AG), FLNB(c.3583 GA), EVC(c.884 CG), GUSB(c.10 GA), ARSE(c.775 C G), DYNC2 H1(p.F3571 Rfs*5, GALNS(c.1462 GA), PCNT(c.5582 CT), FLNA(c.1582 GA), etc., total 19. From mother: AGL(c.686 AG), SLC34 A1(c.533 TA), ESCO2(c.1522 AG), COL 5 A1(c.378 GT), SLC34 A3(c.1612 CT), DYNC2 H1(p.R2771 S), F BN1(c.3463+3 AG), GDF5(c.979 CG), etc., total 28.(2)After Sanger sequence and identificatio n of pathogenicity for the novel mutations, both F3571 Rfs*5 and R2771 S of DYNC2 H1 gene ar e pathogenic. Where the mutations of amino acids are highly conserved, the spatial conformation change caused by the mutations is significant. Conclusion(1)After NGS, Sanger sequence and identification of patho-genicity, the fetus was di agnosed with rare asphyxiating thoracic dysplasia type 3(ATD3), so termination of pregnancy wa s recommended. The root cause of this fetus‘ disease are F3571 Rfs*5 and R2771 S of DYNC2 H1 gene.(2)For rare genetic skeletal disorders, it can be detected with NGS and Sanger sequence.

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