Abstract：Objective To study the expression of Shh and Wnt5a genes in the limb buds of NIPBL+/- fetal rats and the association of these two genes with Cornelia de Lange syndrome (CdLS). Methods A total of 72 NIPBL+/- fetal rats were divided into an experimental group and a control group, with 36 rats in each group. The limb buds were collected from 12 fetal rats each on embryonic days 10, 11 and 12 (E10, E11 and E12) respectively. Real-time PCR and Western blot were used to measure the mRNA and protein expression of Shh and Wnt5a. Results The mRNA and protein expression of Shh and Wnt5a was detected in the limb buds on E10, E11 and E12, and the experimental group had significantly lower expression than the control group (P P Conclusions The mRNA and protein expression of Shh and Wnt5a are consistent. The pathogenesis of CdLS may be associated with the low mRNA and protein expression of Shh and Wnt5a inhibited by the low expression of NIPBL gene.
邢蓬蕊,潘金勇,张惠荣. Shh与Wnt5a基因在Cornelia De Lange综合征中的表达及意义[J]. 中国当代儿科杂志, 2019, 21(5): 485-490.
XING Peng-Rui,PAN Jin-Yong,ZHANG Hui-Rong. Expression and significance of Shh and Wnt5a genes in Cornelia de Lange syndrome[J]. CJCP, 2019, 21(5): 485-490.
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