A novel mutation in exon 1 of the
            <i>ATP2A2</i>
            gene in four members of one Chinese family with Darier disease

Li, C.; Xiao, Zhilong; Peng, Y.; Liu, Z.; Zhang, Y.

doi:10.1111/ced.14284

Cited by 1 publication

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References 6 publications

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“…Therefore, ATP2A2 mutation affects Ca 2+ signal and affects the formation of cell adhesion and intercellular connection [1] . Xia Qianqian et al [2] showed that most cases of keratosis of hair follicles (Darier's disease, DD) are caused by mutations in ATP2A2.…”

Section: Introductionmentioning

confidence: 99%

Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

et al. 2021

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In order to explore the influence of the polymorphism in the 20 intron region of the Sansui duck ATP2A2 gene on the eggshell quality, this study used Primer Premier 5 software to design and synthesize a pair of primers in the 20 intron region, two-way direct sequencing and sequence alignment to mine SNPs Sites, SPSS 18.0 software was used to analyze the relationship between SNP sites and eggshell quality of Sansui duck. Results Three SNP sites were found in the 20 intron region of the ATP2A2 gene: g.40874 T>C, g.40920 G>A and g.40990 T=C, all of which were moderately polymorphic, at the site g.40874 T ＞C and g.40920 G＞A both deviated significantly from Hardy-Weinberg equilibrium (P>0.05), position g.40990 T=C accords with Hardy-Weinberg equilibrium (P<0.05), and position g.40874 T＞C There is a strong linkage disequilibrium between g.40990 T=C; a total of 4 haplotypes and 9 double types were detected at 3 SNP loci; the results of association analysis show that g.40874 T＞C mutation has an effect on eggshell strength The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes (P<0.05), and the eggshell weight of CC genotype was significantly higher than that of TC genotype (P<0.05), g. The 40990 T=C mutation has a significant effect on the eggshell strength, and the eggshell strength of the TC genotype is significantly higher than that of the TT genotype (P<0.05). In summary, the g.40874 T>C and g.40990 T=C found in the 20th intron region of the Sansui duck ATP2A2 gene may be the marker sites that affect the quality of the eggshell.

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Section: Introductionmentioning

confidence: 99%

Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

et al. 2021

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A novel mutation in exon 1 of the ATP2A2 gene in four members of one Chinese family with Darier disease

Abstract: Click https://www.wileyhealthlearning.com/ced.aspx for the corresponding questions to this CME article.

Cited by 1 publication

References 6 publications

Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

Effects of genetic variation in the 20th intron of Sansui duck ATP2A2 gene on eggshell quality

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