Biomaterial Database

HLA-DR and DQ DNA genotyping in multiple sclerosis patients in Northern Ireland. 1991

C G Cullen, and D Middleton, and D A Savage, and S Hawkins

Northern Ireland Tissue Typing Service, Belfast City Hospital.

DNA from multiple sclerosis (MS) patients and healthy control individuals from the Northern Ireland population, was assessed by restriction fragment length polymorphism (RFLP) analysis to look for disease-associated polymorphisms. HLA-DR and -DQ allogenotyping was performed using a single enzyme (TaqI)/Multiple probe system. The TaqI/DR beta RFLPs correlate well with serologically defined specificities and in addition detect further subtypes of these associated with DQ or Dw specificities. The results confirm an association of MS with DR beta 15 and show a decreased frequency of DR beta 4 in the patients. An increased frequency of DR beta 17 in patients negative for DR beta 15 was also found. There is a decrease in the frequency of the TaqI/DQ beta 3 (TA10 + ve) RFLP and the TaqI/DQ alpha 2LL genotype in the MS patients, these not being associated with DR beta 15. In addition RFLP analysis of the DPA1 and DPB1 genes reveals an MspI/DP beta 3.0-kb fragment which occurs at a higher frequency in the patients than in the controls.

UI	MeSH Term	Description	Entries
D009103	Multiple Sclerosis	An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)	MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006683	HLA-DQ Antigens	A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.	HLA-DC Antigens,HLA-MB Antigens,HLA-DC,HLA-DQ,HLA-DS,HLA-DS Antigens,HLA-LB,HLA-LB Antigens,HLA-MB,Antigens, HLA-DC,Antigens, HLA-DQ,Antigens, HLA-DS,Antigens, HLA-LB,Antigens, HLA-MB,HLA DC Antigens,HLA DQ Antigens,HLA DS Antigens,HLA LB Antigens,HLA MB Antigens
D006684	HLA-DR Antigens	A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.	HLA-DR,Antigens, HLA-DR,HLA DR Antigens
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man