Biomedical subjects

Kun Xia

Publications and source records attributed to Kun Xia.

93 records · Page 6Linked to original sources

PubMed2002

[Translational frameshift may be occur in p11, an interaction protein of Cx31, in yeast].

Connexin 31 is a member of connexin family. The carboxy-terminal cytosolic domain of connexin 31 contains several potential phosphorylation sites. In this work, a yeast two-hybrid protein interaction screen have been used to identify proteins that bind to the carboxy-terminus of connexin 31, and the p11 protein, an unique member of S100 protein family, and one of the two subunits of the annexin II tetramer was isolated. Interestingly, from yeast two-hybrid AD's coding sequence, three different reading frames of p11 DNA sequence were found,which come from different AD plasmids. By constructing AD plasmids using p11 ORF or 5' UTR, the protein coding by p11 ORF bind to connexin 31, while polypeptides coding by three kinds of 5 UTR did not bind to connexin 31, suggesting a translational frameshift of p11 fusion protein. To construct baits by dividing connexin 31 C-terminus into two domain, the p11 binding domain of connexin 31 was found located between 206-237 codons. The plasmid Cx31CT-pGEX-4T-2 was constructed for expression and purification of GST-Cx31CT; and p11-pQE30 for expression and purification of 6xHis-p11. In vitro binding assay showed that recombinant Cx31 interacted with recombinant p11.

5' Untranslated Regions↗

PubMed2002

[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].

OBJECTIVE: To report a Chinese Charcot-Marie-Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation. METHODS: All family members were studied through clinical examinations, out of them, the proband was subjected to electromyography and BAEPs examination. Mutation analysis of Cx32 was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in the proband, 8 family members and 50 unrelated normal individuals. RESULTS: The proband had highly decreased nerve conduction velocities and delayed BAEPs. Leu131Pro mutation was found in the proband and 3 family members, not found in 50 normal controls. CONCLUSION: This mutation has not been reported previously. Central nervous system can be affected in CMT patients.

Asian People↗

PubMed2002

[An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes].

OBJECTIVE: To make a further exploration of the mutation frequence of Chinese genetic deafness and make clear if the genetic deafness genealogy that we collected recently was resulted from the mutation of the deafness genes which had been cloned. METHOD: We made regular otologic examination, hearing test and physical examination among the members of this genealogy, and also inspected the mutation of seven autosomal domiant deafness genes, HDIAI,GJB2, GJB3, DFNA5, a-tectorin(resulting in two types of genetic deafness, DFNA8 and DFNA12), MYO7A,POU4F3, with PCR-Sequencing method in this genealogy. RESULT: 1. The analysis of hereditary mode: There were forty-seven persons collected in five generations of this genealogy, and eighteen persons of them were deafness. It accorded with autosomal dominant inheritance from the pedigree. 2. The clinic feature: All patients with deafness were postlingual deafness. Their hearing decreased onset between sixteen to thirty years old, and the deafness was binaural symmetrical, progressive sensorineural and without other systems abnormity. 3. Analysis of mutation detection: We found two nucleotides changes in CX26 genes, A341G and GC257-258CG, and one changed nucleotide in POU4F3 gene,T90C. But we didn't think the changed nucleotides caused deafness after we analysed them. No mutation was found in other five genes. CONCLUSION: The possibility that the deafness of this genealogy was resulted from the cloned gene is relatively small. Now, We are scanning the whole gene groups and making linkage analysis on this pedigree, it is most probably to orientate a new deafness gene position.

Adolescent↗