In order to explore the influence of the polymorphism in the 20intron 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 order to explore the influence of the polymorphism in the 20intron 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.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 showed that g.40874 T>C mutation had a significant effect on eggshell strength and eggshell weight.The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes(P<0.05),the eggshell weight of CC genotype was significantly higher than that of TC genotype(P<0.05),and 40990 T=C mutation had a significant effect on eggshell strength.The eggshell strength of TC genotype was 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.展开更多
BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH childr...BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.CASE SUMMARY We report a case of CAH with a high suspicion before delivery.The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results.Our report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the father.CONCLUSION It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.展开更多
基金Project supported by the National Natural Science Foundation of China(31760663).
文摘In order to explore the influence of the polymorphism in the 20intron 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.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 showed that g.40874 T>C mutation had a significant effect on eggshell strength and eggshell weight.The eggshell strength of CC genotype was significantly higher than that of TC and TT genotypes(P<0.05),the eggshell weight of CC genotype was significantly higher than that of TC genotype(P<0.05),and 40990 T=C mutation had a significant effect on eggshell strength.The eggshell strength of TC genotype was 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.
基金Supported by the Fundamental Research Funds of Health Commission of Sichuan Province,No.17ZD035.
文摘BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.CASE SUMMARY We report a case of CAH with a high suspicion before delivery.The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results.Our report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the father.CONCLUSION It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.
