Molecular genetics selection on individual genes is a promising method to genetically improve economically important traits in livestock. The insulin like growth factor-I (IGF-I) gene may play important roles in growth of multiple tissues, including muscle cells, cartilage and bone. The objectives of the present study were the estimate the haplotype frequencies of the IGF-I gene polymorphisms i...

data not shown). Figure 1 demonstrates the two alleles of exon 15 of hMLH1 obtained with and without the modifications described above. The modified technique resulted in unequivocal resolution in the complete absence of artifactual bands. Representative samples of hMLH1 exon 15 were subcloned (TA Cloning® Kit; Invitrogen, San Diego, CA, USA) and sequenced following manufacturer’s instructions ...

PURPOSE The PAX6 gene mutation in aniridia has been studied in various ethnic patients, but not well studied in the Chinese population. In the present study, we have investigated the PAX6 gene mutation in a Chinese family with congenital aniridia. METHODS Total genomic DNA was isolated from peripheral blood of three aniridia patients (who also suffered from bilateral congenital cataracts) and...

To better investigate Pneumocystis carinii f. sp. hominis epidemiology, we have developed a molecular typing method. Because of the limited genetic variability of the P. carinii hominis genome, a multitarget approach was used. Four variable regions of the genome were amplified by PCR, polymorphism in each region was assessed by the single-strand conformation polymorphism (SSCP) technique, and t...

Many studies have been focused on cytogenetic and molecular genetic defects in brain tumors; therefore the role of ATM as a tumor suppressor gene in these tumors is poorly considered. In this study mutation analysis of exon 19 and 39 of ATM gene and P53 accumulation were investigated by PCR-SSCP, sequencing, and flow cytometry . Four polymorphisms including D1853N, IVS 38-8 T?C, F858L, P872T we...

Single-strand conformation polymorphism (SSCP) has become the most widely used method to screen new mutations or already-established polymorphisms. Several protocols have been described to overcome the two main problems related to this technique, which are separation of both strands and detection. For the former, there are methods using a strong denaturant such as methylmercury hydroxide to enh...

In the present study, we analysed human choriocarcinoma cell lines for abnormalities in the tumour-suppressor gene p53 by Southern blotting, Northern blotting, non-radioisotopic single-stranded conformational polymorphism (SSCP) and complementary DNA sequencing. In all cell lines (Bewo, GCH-1, GCH-2, SCH, JAR, JEG-3, NUC-1 and HCCM-5), no p53 gene abnormality was detected by using Southern blot...

This study examined genetic variability within Spirometra erinacei (Cestoda: Pseudophyllidea) from different host species and geographical origins in Australia using a polymerase chain reaction (PCR)-based mutation detection approach, followed by DNA sequencing. Part of the cytochrome c oxidase subunit 1 gene (p cox 1) was amplified by PCR, scanned for sequence variation by single-strand confor...

OBJECTIVE To identify the disease-causing mutation and to characterize penetrance and phenotypic variability in a large pedigree with episodic ataxia type 2 (EA-2) previously linked to chromosome 19. BACKGROUND Mutations in the CACNA1A gene on chromosome 19 encoding a calcium channel subunit cause EA-2, which is characterized by recurrent attacks of imbalance with interictal eye movement abno...