p53 gene mutation was detected in 77%(43/56) of the same specimens by PCR-SSCP. In 5 cases,the mutation were located on exon 4,23 on exon 5,1 on exon 6,4 on exon 7,7 on exon 8 and 3 on intron respectively.
Methods: Mutations of the exon1,2,4 of nm23-H1 gene in 16 HCC tissues,12 adjacent liver tissues and 4 normal liver tissues were examined by means of PCR-SSCP.
Objective To explore the association between the polymorphism of metabolic genes(GSTT1、GSTM1、CYP1A1) and tumor suppression gene p53 coden 72 and human longevity.
The apolipoprotein E (ApoE) gene polymorphism resulting from nucleotide substitutions in exon 4 was analyzed in Russian and Tatar patients with myocardial infarction (MI) from Bashkortostan.
Basing on analysis of variation of nucleotide sequences of D-loop, exon 4 of κ-Casein and exon 2 of MhcAlal-DRB1, we demonstrated that Eurasian moose studied belong to the unique species, which has probably passed through a bottle neck.
Exon 3 termination mutation of phenylalanine hydroxylase (PAH) gene, the only identified one causing classical phenylketonuria (PKU) in Chinese, was detected in fourteen PKU children from Xi'an. The genomic DNA from these patients was amplified by polymerase chain reaction(PCR) and dot hybridied with specific oligonucleotide probes. This mutation is not present in any of these affected children, which indicates that phenylketonuria in Chinese may be caused by other mutations in phenylalanine hydroxylase loc...
Applying recombinant DNA techni- ques,the structures of red pigment gene(RPG)and green pigment gene(GPG)were analyzed for 43 pa- tients with protan or deutan(including 3 females),4 normal reladves and 3 carriers out of 3 families,as well as 11 normal controls.Abnormality of RPG was detected in all 19 protan and that of GPG was found in 14 out of 24 deutan.In about 80%(32/40) of protan and deutan the changing of exon 5 for RPG or GPG was discovered.In protan the normal RPG was replaced by a 5' red —3' green ...
In this paper,we analyse Xba I/FⅧ_(E22)RFLP in the population of Suzhou usinga intragenic factor Ⅷ cDNA probe FⅧ_(E22).The results show 9.6/4.8 K b poly-morphism,and their frequency are 0.36/0.64 respectively.The value of PIC is 0.46Based on this polymorphism,carrier detection of hemophilia A was performed.