A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of...
该基因位于11p13染色体,有14个外显子,编码区从4号外显子至13号外显子。 图1. Pax6的基因相关信息 来源:RDDC罕见病数据中心(https://rddc.tsinghua-gd.org/details/gene?gene=maVY72) 该蛋白包含422个氨基酸,有配对结构域、同源结构域和富含脯氨酸-丝氨酸-苏氨酸的结构域三个结构域。配对结构域、同源结构域...
The objective of this study was to investigate the genotype-phenotype correlation of the PAX6 gene in aniridia. We clinically examined 5 families and 16 sporadic patients with aniridia. We performed chromosomal analysis and PCR analysis of the PAX6 gene using patient genomic DNA. Chromosomal ...
genemutationorchanginginitsexpression. [Keywords]Pairedbox gene6;Transcriptionfactor;Humans;Eyeabnormalities—causinggene;Mutation; Regulation of geneexpression;Braindevelopment;Eyedevelopment 人类配对盒基因6(pairedboxgene6,Pax6)是控眼(smalleye,Sey)与人类无虹膜症(aniridia,AN)。1-3]。
【7】 Carbe C, Garg A, Cai Z, Li H, Powers A, Zhang X. An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes. J Biol Chem. 2013;288(17):12130-12141. doi:10.1074/jbc.M112.436865 ...
【7】 Carbe C, Garg A, Cai Z, Li H, Powers A, Zhang X. An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes. J Biol Chem. 2013;288(17):12130-12141. doi:10.1074/jbc.M112.436865 ...
The detailed molecular mechanisms underlying the mental retardation and brain structure defects of PAX6 mutation is yet unknown. Congenital aniridia can also occur in the WAGR syndrome (Wilms’ tumor, aniridia, genitourinary abnormalities, and mental retardation), a syndrome due to a contiguous gene ...
N, nonsense mutation; FS, frame-shifting insertion or deletion; S, splice mutation; M, missense mutation; AT, anti-termination mutation; IF, in-frame insertion or deletion. of such a mutation is predicted to be continuation of translation into the 3' untranslated region of the PAX6 gene. ...
Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet. 1999;65(3):656-663.Azuma, N., Yamaguchi, Y., Handa, H., Hayakawa, M., Kanai, A., & Yamada, M. (1999). Missense mutation in the alternative splice region of the PAX6 gene in...
gene in也eexon thatcodeshomeoboxdomainofthe protein. ’ 3.Westemblot a11alysis connnnedthat廿1e Pa)(6 protein levelwas d硼matically decreasedinthc hetero巧gous m咖n mice,indicated DEBA mutationis a 10ssof functionmutationand havinghaploins谢弧ciency. ...