Localization of human adenosine deaminase (ADA) gene sequences to the q12→q13.11 region of chromosome 20 by in situ hybridization

Jhanwar, Suresh C.; Berkvens, Th.M.; Breukel, Cor; Ormondt, H. van; Eb, A. J. Van Der; Khan, P. Meera

doi:10.1159/000132752

Cited by 17 publications

(6 citation statements)

References 10 publications

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“…Therefore we favour the most distal of the two conflicting localizations proposed on chromosome 20q for the ADA locus (Philip et al, 1980;Jhanwar et al, 1987). Similarly, the four human STIRs found in the DNA sequence databases are also located in terminal parts of autosome arms.…”

Section: Discussionmentioning

confidence: 68%

“…The chromosomal localization of the four human sequences detected by computer screening had been reported by others and, as the above probes were selected at random, they are located in the terminal intervals 4pl6-pter (HSRFLP3 in locus D4S10) (Magenis et al, 1986), 14q32.3-qter (HSIGMUD in locus IGH) (Kirsch et al, 1982), 20q13.1-qter (HSADAG in locus ADA) (Philip et al, 1980;Jhanwar et al, 1987) and 21q22.3-qter (HSC21DLA in locus D21S3) (see Tanzi et al, 1988). These results tend to show that the presence of a STIR in a DNA sequence predicts a chromosomal localization in the terminal part of a chromosome.…”

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confidence: 97%

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An interspersed repeated sequence specific for human subtelomeric regions.

et al. 1990

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A family of DNA loci (DNF28) from the pseudoautosomal region of the human sex chromosomes is characterized by a repeated element (STIR: subtelomeric interspersed repeat) which detects homologous sequences in the telomeric regions of human autosomes by in situ hybridization. Several STIR elements from both the pseudoautosomal region and terminal parts of autosomes were cloned and sequenced. A conserved 350 bp sequence and some characteristic structural differences between the autosomal and pseudoautosomal STIRs were observed. Screening of the DNA sequence databases with a consensus sequence revealed the presence of STIRs in several human loci localized in the terminal parts of different chromosomes. We mapped single copy probes flanking the cloned autosomal STIRs to the subtelomeric parts of six different chromosomes by in situ hybridization and genetic linkage analysis. The linkage data show a greatly increased recombination frequency in the subtelomeric regions of the chromosomes, especially in male meiosis. The STIR elements, specifically located in subtelomeric regions, could play a role in the peculiar recombination properties of these chromosomal regions, e.g. by promoting initiation of pairing at meiosis.

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Section: Discussionmentioning

confidence: 68%

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confidence: 97%

An interspersed repeated sequence specific for human subtelomeric regions.

et al. 1990

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“…The ADA gene encodes adenosine deaminase, an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the purine catabolic pathway. ADA is located on chromosome 20q13.12 [ 95 ]. The activity and the level of ADA have been reported to be altered in patients with MS compared to healthy subjects [ 96 , 97 ].…”

Section: Pharmacogenetics Of New Therapies In Msmentioning

confidence: 99%

Therapeutic Value of Single Nucleotide Polymorphisms on the Efficacy of New Therapies in Patients with Multiple Sclerosis

Romero

Ramírez

Campos

et al. 2021

JPM

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The introduction of new therapies for the treatment of multiple sclerosis (MS) is a very recent phenomenon and little is known of their mechanism of action. Moreover, the response is subject to interindividual variability and may be affected by genetic factors, such as polymorphisms in the genes implicated in the pathologic environment, pharmacodynamics, and metabolism of the disease or in the mechanism of action of the medications, influencing the effectiveness of these therapies. This review evaluates the impact of pharmacogenetics on the response to treatment with new therapies in patients diagnosed with MS. The results suggest that polymorphisms detected in the GSTP1, ITGA4, NQO1, AKT1, and GP6 genes, for treatment with natalizumab, ZMIZ1, for fingolimod and dimethyl fumarate, ADA, for cladribine, and NOX3, for dimethyl fumarate, may be used in the future as predictive markers of treatment response to new therapies in MS patients. However, there are few existing studies and their samples are small, making it difficult to generalize the role of these genes in treatment with new therapies. Studies with larger sample sizes and longer follow-up are therefore needed to confirm the results of these studies.

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“…By means of in situ hybridization to high resolution spreads of somatic and pachytene chromosomes, the ADA gene was confirmed to localized on 20q12-q13.11 [8]. Mutations at the ADA gene locus, in humans result in a spectrum of phenotypes.…”

Section: Introductionmentioning

confidence: 97%

Identification of Novel Mutations In Adenosine Deaminase Gene In Korean Leukemia Patients

Park¹

2010

Journal of Life Science

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Leukemia is the abnormal increase of hematopoietic progenitor cells in tissues, resulting in anemia, increased susceptibility to infection and impaired blood clotting. The adenosine deaminase (ADA) gene is an important druggable target for the treatment of leukemia patients. Genetic and molecular analyses were performed to determine the effects of ADA gene mutations in 20 leukemia patients in the Korean population. To analyze the relationship between genotype and phenotype, the ADA genomic DNAs -including 1,092 bp of 12 exons and partial intron sequences flanking each exon -were sequenced and compared. In this study, the known mutations in other diseases, more than 50 mutations already reported in patients with severe combined immunodeficiency disease (SCID) and autism, were not found, but two novel mutations in leukemia patients were discovered. They include one nonsense mutation (A>C at nt position 478, F101F) and one missense mutation (G>A at nt position 778, E260K). One missense mutation (G>A at nt position 22, D8Y) was also detected in 20 normal control patients (allelic frequency of 7.5%). Interestingly, subjects in the Korean population retained 2 bp insertion at the intron 6 (IVS6-52insGC), something that has never been shown in other populations. The genetic study to find out the correlation between the mutant alleles and leukemia patients revealed no association statistically (p>0.05). The mutation found in leukemia needs further study to determine its possibility as a molecular marker for the diagnosis of leukemia.

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Localization of human adenosine deaminase (ADA) gene sequences to the q12→q13.11 region of chromosome 20 by in situ hybridization

Cited by 17 publications

References 10 publications

An interspersed repeated sequence specific for human subtelomeric regions.

An interspersed repeated sequence specific for human subtelomeric regions.

Therapeutic Value of Single Nucleotide Polymorphisms on the Efficacy of New Therapies in Patients with Multiple Sclerosis

Identification of Novel Mutations In Adenosine Deaminase Gene In Korean Leukemia Patients

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