Regional assignment of the &lt;i&gt;ADA &lt;/i&gt;locus on 20q13.2→qter by gene dosage studies

Philip, T; Lenoir, Gilbert; Rolland, Marie-Odile; Philip, I; Hamet, M.; Lauras, B; Fraisse, J

doi:10.1159/000131481

Cited by 30 publications

(10 citation statements)

References 2 publications

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“…Furthermore, the extended state of chromosomes used in our study permitted us to precisely localize the gene to bands rather than to a region. Thus, the apparent discrepancy between the ADA assignment of Philip et al (1980) and our own maybe due to the insufficient quality of metaphase banding with a complex rearrangement in chromo some 20 or the presence of a null allele for ADA in the patient Philip et al studied.…”

contrasting

confidence: 65%

“…This assignment was subsequently confirmed by Philip et al (1980), who used a quantitative assay of ADA activity in red blood cells of a patient with a 46,XX,del(20)(ql3.2->qter) karyotype. In view of the fact that in our study (1) the majority of grains were clustered on 20q 12-»q 13.11, rather than on 20ql3.2, (2) a direct method was used to localize the gene, and (3) the metaphase and pachytene preparations were from unrelated individuals, we suggest that the gene is most probably located at q 12->q 13.11.…”

mentioning

confidence: 83%

“…Rudd et al (1979) , using measurements of red cell ADA activity in a patient with partial trisomy 20, have assigned ADA proximal to 20q 11.3, which can be equated to 20ql3.11 according to the revised highresolution banding nomenclature. This is in apparent contradic tion to the localization of ADA to 20ql3.2-»qter by Philip et al (1980) , who assayed ADA activities in blood cells, as well as cultured skin fibroblasts, of a patient described to have a 46,XY.del(20)(ql3.2->qter) complement. Moreover, Petersen et al (1987) found half of the normal activity o f ADA in fibroblasts derived from a patient with a karyotype interpreted as 46,XY.del(20)(pter-»ql 1.23::q 13.11 --qter).…”

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confidence: 94%

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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

Jhanwar

Berkvens²,

Breukel³

et al. 1989

Cytogenet Genome Res

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The gene for human adenosine deaminase (ADA), an enzyme constitutively expressed in all tissues investigated so far and deficient in some cases of severe combined immune deficiency, was previously assigned to chromosome 20 by syntenic analysis, using somatic cell hybrids and quantitative enzyme studies on patients with chromosome abnormalities. Attempts at regional localization of ADA through indirect approaches have so far resulted in uncertainties, as well as apparent inconsistencies. In situ hybridization of high-resolution somatic and pachytene chromosomes using al ³H-abeled cDNA probe of the ADA gene localized the gene to 20q12→q13.11. Rearrangements involving this region have been reported in various human hematological malignancies; in this regard, possible implications of the physical proximity of the ADA gene locus to that of SRC, an oncogene previously localized to the same region of chromosome 20, are briefly discussed.

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confidence: 65%

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confidence: 83%

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confidence: 94%

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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

Jhanwar

Berkvens²,

Breukel³

et al. 1989

Cytogenet Genome Res

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“…Erythrocytic ADA shows electropho retic polymorphism determined by two al leles, A DA* I and A DA *2 [Spencer et al, 1968], at a locus of the long arm of chrom osome 20 (20q 13.2 -qter) [Philip et al, 1980;Honig et al, 1984], Apart from these common alleles, rare alleles have been described [Harris and Hopkinson, 1976;Rogers and Hopkinson, 1981;Weissmann el al., 1982],…”

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confidence: 99%

Enzyme Activity and Distribution of Adenosine Deaminase Types in a Population of Central Italy

Lucarini¹,

Borgiani²

1989

Hum Hered

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Blood samples from 718 unrelated individuals born in municipalities of the ‘Alto Maceratese’ region in central Italy were examined for adenosine deaminase (ADA). The allele frequencies for ADA*1 and ADA*2 were 92.48 and 7.45%, respectively. One case of the rare ADA 5–1 phenotype was observed. The observed phenotype distribution agreed well with the one expected assuming a Hardy-Weinberg equilibrium. Enzyme activity was measured in red blood cells from individuals with different phenotypes. The relationships between the enzyme activity of the phenotypes was found to be ADA 1 > ADA 2–1 > ADA 2 > ADA 5–1.

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“…The regional assignment of ADA to 20ql3.2-qter (Philip et al 1980) was confirmed by deletion mapping (Honig et al 1984).…”

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confidence: 82%

Report of the committee on the genetic constitution of chromosomes 20, 21, and 22

Tippett¹,

Kaplan²

1985

Cytogenet Genome Res

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Regional assignment of the <i>ADA </i>locus on 20q13.2→qter by gene dosage studies

Cited by 30 publications

References 2 publications

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

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

Enzyme Activity and Distribution of Adenosine Deaminase Types in a Population of Central Italy

Report of the committee on the genetic constitution of chromosomes 20, 21, and 22

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