DQ beta restriction fragment length polymorphism and its relationship to insulin dependent diabetes mellitus. 1987

J A Sachs, and P G Cassell, and H Festenstein, and J Awad, and G A Hitman
Department of Immunology, London Hospital, Medical College.

HLA Class II serological and DQ beta restriction fragment length polymorphisms (RFLPs) were compared in 69 patients with insulin-dependent diabetes mellitus (IDDM) and 81 healthy British Caucasoid controls. The backbone of the analysis was formed by two Taq 1 RFLPs of the DQ beta region designated T2 omega and T6. The two are not allelic and can be inherited individually, together on one, or separately on both, parental haplotypes, the latter almost invariably in association with DR4. In our study the frequency in IDDM patients of both T2 omega and T6 together (relative risk for IDDM = 6.4) is similar to that of DR3/DR4 (relative risk for IDDM = 5.4) with an even higher relative risk for IDDM when they are combined, (relative risk = 18 with 95 per cent confidence limits between 14 and 22). We have thus defined DQ beta RFLPs which tightly associate with IDDM individuals with DR4.

UI MeSH Term Description Entries
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
D003922 Diabetes Mellitus, Type 1 A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence. Diabetes Mellitus, Brittle,Diabetes Mellitus, Insulin-Dependent,Diabetes Mellitus, Juvenile-Onset,Diabetes Mellitus, Ketosis-Prone,Diabetes Mellitus, Sudden-Onset,Diabetes, Autoimmune,IDDM,Autoimmune Diabetes,Diabetes Mellitus, Insulin-Dependent, 1,Diabetes Mellitus, Type I,Insulin-Dependent Diabetes Mellitus 1,Juvenile-Onset Diabetes,Type 1 Diabetes,Type 1 Diabetes Mellitus,Brittle Diabetes Mellitus,Diabetes Mellitus, Insulin Dependent,Diabetes Mellitus, Juvenile Onset,Diabetes Mellitus, Ketosis Prone,Diabetes Mellitus, Sudden Onset,Diabetes, Juvenile-Onset,Diabetes, Type 1,Insulin Dependent Diabetes Mellitus 1,Insulin-Dependent Diabetes Mellitus,Juvenile Onset Diabetes,Juvenile-Onset Diabetes Mellitus,Ketosis-Prone Diabetes Mellitus,Sudden-Onset Diabetes Mellitus
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
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
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
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor
D015343 DNA Probes, HLA DNA probes specific for the human leukocyte antigen genes, which represent the major histocompatibility determinants in humans. The four known loci are designated as A, B, C, and D. Specific antigens are identified by a locus notation and number, e.g., HLA-A11. The inheritance of certain HLA alleles is associated with increased risk for certain diseases (e.g., insulin-dependent diabetes mellitus). DNA Probes, Histocompatibility Antigen,HLA DNA Probes,Histocompatibility Antigen DNA Probes,Human Leukocyte Antigen DNA Probes,HLA-A DNA Probes,HLA-B DNA Probes,HLA-C DNA Probes,HLA-D DNA Probes,HLA-DR DNA Probes,HLA-Dw DNA Probes,DNA Probes, HLA-A,DNA Probes, HLA-B,DNA Probes, HLA-C,DNA Probes, HLA-D,DNA Probes, HLA-DR,DNA Probes, HLA-Dw,HLA A DNA Probes,HLA B DNA Probes,HLA C DNA Probes,HLA D DNA Probes,HLA DR DNA Probes,HLA Dw DNA Probes,Probes, HLA DNA,Probes, HLA-A DNA,Probes, HLA-B DNA,Probes, HLA-C DNA,Probes, HLA-D DNA,Probes, HLA-DR DNA,Probes, HLA-Dw DNA

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