| 唐克峰,李志,夏莉花,舒艳,胡刚,方嵘,沈国松.一例骨骼发育异常胎儿ALPL基因的遗传学分析[J].浙江中西医结合杂志,2022,32(2): |
| 一例骨骼发育异常胎儿ALPL基因的遗传学分析 |
| Genetic analysis of ALPL gene in a fetus with skeletal dysplasiaTang Kefeng, Li Zhi, Xia Lihua, Shu Yan, Hu Gang, Fang Rong, Shen Guosong |
| 投稿时间：2021-07-22 修订日期：2021-10-11 |
| DOI： |
| 中文关键词: ALPL基因 复合杂合变异 低磷酸酯酶症 |
| 英文关键词:ALPL gene Compound heterozygous variant HPP |
| 基金项目:浙江省医药卫生科技计划项目(2019RC287) |
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| 中文摘要: |
| 目的 检测1例骨骼异常胎儿染色体核型、全基因组拷贝数变异以及骨骼系统相关基因,为产前诊断提供分子遗传学依据。方法 采集1例孕育骨骼异常胎儿的孕妇的羊水细胞进行胎儿染色体核型分析、全基因组拷贝数变异以及骨骼系统相关基因检测,结合孕妇夫妇外周血相关基因验证,并行家系分析。结果 胎儿ALPL基因存在c.18del和c.979T>C复合杂合变异,孕妇为c.18del杂合变异携带者,其丈夫为c.979T>C杂合变异携带者。胎儿全基因组未发现拷贝数异常,核型分析未见异常。结论 ALPL基因c.18del和c.979T>C复合杂合变异可能为该胎儿骨骼异常的致病原因,为骨骼异常胎儿产前诊断提供了可靠依据。 |
| 英文摘要: |
| Objective To detect chromosomal karyotype, copy number variation in whole genome and skeletal system related genes of a fetus with skeletal abnormalities and provide molecular genetic basis for prenatal diagnosis. Methods Amniotic fluid cells of a pregnant woman with a fetus of skeletal abnormalities were collected for fetal karyotype analysis, genome-wide copy number variation and detection of genes related to skeletal system, combined with peripheral blood related gene validation of pregnant women and her husband. Results There are c.18del and c.979T>C heterozygous variants in fetal ALPL gene, and the pregnant woman is a carrier of c.18del heterozygous variation, and her husband is a carrier of c.979T>C heterozygous variation, and no copy number abnormality was found in the whole genome of the fetus with nomal chromosomal karyotype. Conclusion ALPL gene c.18del and c.979T>C heterozygous variation may be the cause of skeletal abnormalities in the fetus, and the detection of new variation extends the ALPL gene variant spectrum. |
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