1.Pathogenic gene mutation in a Han Chinese family with hereditary vitreous amyloidosis identified by Sanger sequencing
Peiran ZHU ; Qiuyue WU ; Maomao YU ; Mingchao ZHANG ; Mengxia NI ; Shuaimei LIU ; Weijun JING ; Jing ZHANG ; Weiwei LI ; Jin CAO ; Yi LI ; Chunyan XUE ; Xinyi XIA
Chinese Journal of Clinical Laboratory Science 2017;35(3):181-183
Objective Our purpose was to investigate the pathogenic gene mutation of a Han Chinese family with vitreous amyloidosis.Methods The 9 individuals(proband,1 affected member and 7 unaffected members) of the family were selected and their DNA was extracted from peripheral blood.The 4 exons of transthyretin(TTR) gene were amplified by polymerase chain reaction(PCR) technique.The amplified products of TTR gene were sequencing by Sanger technique.We also selected 100 unrelated healthy individual as the control group.Results By DNA sequencing,a heterozygous mutation was found in 4 of the 9 subjects from the family.The transition of adenine to cytosine(AAG ＞ ACG) was detectable in exon 2 of TTR,which changed the amino acid composition at codon 35 (Lys35Thr).This mutation did not presented in control group.Conclusion The heterozygosis mutation of TTR gene Lys35Thr should be a pathogenic mutation for the family with vitreous amyloidosis.
2.Correlation between differential expression of microRNA and quality of embryos.
Mengxia NI ; Yongfeng XUE ; Jie DING ; Shenmin YANG ; Aiyan ZHENG ; Yan PU ; Wei WANG ; Hong LI ; Jian OU
Chinese Journal of Medical Genetics 2020;37(9):938-941
OBJECTIVE:
To explore the correlation between microRNA (miRNA) differential expression and quality of embryo.
METHODS:
The miRNA expression profiles of 8 blastocysts were detected by a TaqMan microRNA array, and miRNAs with a stable expression were selected. Additional blastocysts were selected, and the candidate miRNA was detected by real-time PCR. Meanwhile, chromosomal abnormalities of the embryos were detected by using next-generation sequencing, and the results were compared.
RESULTS:
The expression of mir-720, mir-372, mir-886-3p and mir-512-3p was higher than that of miR-145, which suggested that mir-720, mir-372, mir-886-3p and mir-512-3p are related to early embryo development. The expression of miR-145 and mir-886-3p were significantly lower in the normal chromosome group. With the threshold values of above 9 and 3 for the relative expression of miR-145 and mir-886-3p, respectively, there was no embryo without a chromosomal abnormality.
CONCLUSION
There is a correlation between the expression level of specific miRNA and chromosomal abnormalities of embryos, which may be used as a novel biomarker for embryo selection.
Result Analysis
Print
Save
E-mail