BACKGROUND Molecular marker based cancer diagnosis gaining more attention in the current genomics era. So, Hspb1 and Tp53 gene characterization and their mRNA expression might be helpful in diagnosis and prognosis of cat mammary adenocarcinoma. It will also add information in comparative cancer genetics and genomics. OBJECTIVES Eight tumors of Siamese cats were analyzed to ascertain germ-line...

To elucidate RB1 germline mutations in Korean retinoblastoma patients, DNA samples from 14 children with bilateral (including three familial cases) and 19 children with unilateral retinoblastoma were analyzed. We found germline mutations in three out of 14 bilateral cases and one out of 19 unilateral cases. There were no germline mutations in the three familial cases. PCR-SSCP from each exon sh...

The intron-exon structure of Khorasan native fowl interleukin-2 (IL-2) was investigated. For this purpose, twenty chickens were selected from the Native Fowl Breeding Station of Khorasan province, and genomic DNA was extracted using a modified conventional DNA extraction protocol. An 875 bp fragment of IL-2 was successfully amplified, including a small part of the promoter, exon 1, intron 1, an...

This study aims to analyze the impact of environmental biogeography on point mutations in Kosta and Lakor goat breeds as local Indonesian germplasm using GDF9 Exon 1 gene sequence. A total 43 folicle samples goats which collected Serang regency island were analyzed. To isolate genome samples, tissue isolation method was used. The polymerase chain reaction (PCR) used for amplification exon-1 reg...

We studied 3 Spanish patients with <1% FXII levels. DNA sequencing of the whole F12 gene identified 15 genetic variants. Molecular analyses of F12 mRNA demonstrated that the deficiency was caused by 5281delG in exon 9 of Patient 1 (in the homozygous state) and the 6306delG in exon 12 and another deletion of 23 bp in intron 8 of Patient 2 (both in the heterozygous state). Finally, a G-8C transve...

while exon 1 variants exhibited a complex pattern (Figure 1A). In order to determine if the SSCP variants represent somatic mutations or genetic polymorphisms, we analyzed paired normal-tumor DNAs by SSCP in 14 of 15 exon 1 variants and all 5 exon 3 variants in GCTs. The BCL10 gene has recently been cloned from the We found identical SSCP variants in all cases, sug-chromosomal translocation t(1...

Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...

aim : the propose of this study was to evaluate the probable correlation between exon and intron polymorphisms of p53 gene and their association with clinicopathological aspects of gastritis. background : regarding to the decisive role of p53 in the development of a variety of human cancers, a comprehensive study concerning probable correlation between polymorphisms in the p53 intron and exon i...