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Biomedical subjects

O Domínguez

Publications and source records attributed to O Domínguez.

7 recordsLinked to original sources
PubMed1992

Analysis of ras oncogene mutations in human squamous cell carcinoma of the head and neck.

The presence of proto-oncogene mutations at codons 12, 13 and 61 of the Ha-, Ki-, and N-ras in primary head and neck squamous cell carcinoma are analysed in this study. Oncogene ras-specific sequences were amplified by the polymerase chain reaction and probed with mutation specific oligonucleotide probes. Mutations were detected in 8 of 22 samples (36.3%). No mutations were detected on patients' peripheral blood DNA. We found that histologically and clinically, squamous cell carcinomas with or without a ras mutation do not differ significantly from each other.

Carcinoma, Squamous Cell↗
PubMed1991

DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

In this report we describe the linkage between genes encoding human complement components C6, C7, and C9. Polymorphisms have been described at the DNA level for the C7 and C9 genes. We have studied 20 individuals by Southern blot analysis with four C6 cDNA subclones to detect restriction fragment length polymorphisms (RFLPs). We have found a Taq I polymorphism defined by two alleles of 8.0 (C6 H) and 6.0 (C6 L) kilobases (kb). RFLP segregation for the C6, C7, and C9 loci in informative families allowed us to estimate the maximum Lod scores at a recombination fraction of theta = 0.0 (C6-C7), theta = 0.0 (C7-C9), and theta = 0.0 (C6-C9). Significant linkage disequilibrium was found between C6 and C7 and between C7 and C9 loci in directly determined haplotypes of unrelated parents. Data from this study show that the genes encoding the human terminal complement components C6, C7, and C9 define a cluster in the short arm of chromosome 5. We propose that the clusters involving the C8A and C8B and the C6, C7, and C9 genes be referred to as MACI and MACII, respectively.

Chromosome Mapping↗
PubMed1991

Germline repertoire of T-cell receptor beta-chain genes in patients with insulin-dependent diabetes mellitus.

We have investigated the genotype and allelic distribution of germline restriction fragment length polymorphisms of the T-cell receptor beta chain, segment C beta, and two variable segments which are in linkage disequilibrium, V beta 8 and V beta 11, in 42 insulin-dependent diabetes mellitus (IDDM) patients and in 51 healthy blood donors used as controls. Recently, several works have reported contradictory results showing or not showing an association between polymorphic alleles of the C beta gene and diabetes type I. We found no significant differences in the allele, genotype, and haplotype distribution of the gene segments studied, between IDDM patients and control populations.

Adolescent↗
PubMed1990

DNA polymorphism of the human complement component C7 gene in familial deficiencies.

A C7 cDNA probe detecting a TaqI restriction fragment length polymorphism has been used to examine the segregation of the "silent allele" (C7*Q0) in two familial deficiencies. Carrier diagnosis in healthy children is possible when both parents are heterozygotes. Only one of these two families was informative. The "silent allele" is linked to different TaqI alleles in both families. This suggests that at least two different C7*Q0 alleles are present in our population. This paper gives a protocol for genetic studies of hereditary traits in which the C7 gene and other genes tightly linked to it are involved.

Alleles↗