Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.7 (DNA polymerase)
 17,007 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report here the DNA polymerase chain reaction sequence-specific oligonucleotide (PCR-SSO) typing of the HLA-DR B1, B3, B4, B5 and DQB1 loci for a sample of 103 Vietnamese Kinh from Hanoi, and compare their allele and haplotype frequencies to other East Asiatic and Oceanian populations studied during the 11th and 12th International HLA Workshops. The Kinh exhibit some very high-frequency alleles both at DRB1 (1202, which has been confirmed by DNA sequencing, and 0901) and DQB1 (0301, 03032, 0501) loci, which make them one of the most homogeneous population tested so far for HLA class II in East Asia. Three haplotypes account for almost 50% of the total haplotype frequencies in the Vietnamese. The most frequent haplotype is HLA-DRB1*1202-DRB3*0301-DQB1*0301 (28%), which is also predominant in Southern Chinese, Micronesians and Javanese. On the other hand, DRB1*1201 (frequent in the Pacific) is virtually absent in the Vietnamese. The second most frequent haplotype is DRB1*0901-DRB4*01011-DQB1*03032 (14%), which is also commonly observed in Chinese populations from different origins, but with a different accessory chain (DRB4*0301) in most ethnic groups. Genetic distances computed for a set of Asiatic and Oceanian populations tested for DRB1 and DQB1 and their significance indicate that the Vietnamese are close to the Thai, and to the Chinese from different locations. These results, which are in agreement with archaeological and linguistic evidence, contribute to a better understanding of the origin of the Vietnamese population, which has until now not been clear.
 ...
PMID:HLA-DR and -DQB1 DNA polymorphisms in a Vietnamese Kinh population from Hanoi. 944 2

The association between HLA class II antigens and childhood primary nephrotic syndrome has been reported in different populations. To investigate this association in Egyptian children, DRB1 alleles were typed by DNA polymerase chain reverse hybridization in 20 frequent relapsers/steroid-dependent and 14 steroid-resistant children with minimal change nephrotic syndrome (MCNS) and 121 unrelated healthy controls from the northern part of Egypt. The strength of the association was expressed as the relative risk (RR) estimated by the odds ratio. The DRBI*07011 allele frequency was significantly higher among patients than controls (78.9% vs. 16%, Pc <0.001). The etiological fraction (EF) was high at 0.75 [RR=20.1, confidence interval (CI)=6.0-66.7]. Similarly, patients with steroid-resistant MCNS had a higher frequency of the DRBI*07011 allele than controls (64.3% vs. 16.5%, P c<0.001). The EF was high at 0.57 (RR=9.6, CI 2.9-31.7). In the whole group of patients the frequency of DRBI*11 alleles was low compared with controls (11.4% vs. 32.2%, P =0.02), but was not significant when P was corrected. In conclusion, the DRBI*07011 allele confers susceptibility to a frequently relapsing and steroid-dependent or steroid-resistant course of childhood MCNS. These patterns of the disease seem to have the same immunogenetic components.
 ...
PMID:HLA alleles in frequently relapsing steroid-dependent and -resistant nephrotic syndrome in Egyptian children. 1562 17

By using enzymes that underlie the molecular mechanisms of normal cell function, scientists have advanced the molecular biology of research and diagnostic testing. Normal cells divide and in so doing must accurately replicate their DNA; one of the enzymes crucial in making exact copies of DNA is DNA polymerase, which is at the heart of the polymerase chain reaction. This technique allows one to make billions or trillions of copies from a single molecule of DNA in a few hours, levels of DNA easily detectable by techniques described earlier in this series. The polymerase chain reaction can be used for clinical testing, e.g., identification of DNA derived from a micro-organism. Also, one can clone DNA in large quantities and then determine the specific nucleotide sequences. This then allows one to study the DNA of certain proteins in individuals with a specific disease process and how these DNA sequences differ from those in unaffected people. With this new technology, we can identify the following: variant collagens that underlie familial osteoarthritis; the presence of the DNA of micro-organisms, such as Ureaplasma and Chlamydia, at the site of inflammatory joint diseases, establishing the infectious nature of the synovitis; different human leukocyte antigen (HLA)-B27 alleles that predispose patients to the development of the seronegative spondylarthropathies; and characteristics of different HLA class II molecules that may yield insights into antigen presentation and its role in the pathogenesis of rheumatoid arthritis.
 ...
PMID:Molecular biology and immunology for clinicians DNA polymerase and the polymerase chain reaction. 1907 69