Recombination between Protan and Deutan Genes ; Data on their Relative Positions in Respect of the G6PD Locus

Siniscalco, M.; Filippi, Giorgio; Latte, B

doi:10.1038/2041062a0

Cited by 28 publications

(13 citation statements)

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“…Positive evidence was reported by Mendlewicz et al (2)(3)(4) and Baron (5) using color blindness, and by Mendlewicz et al (6) using glucose-6-phosphate-dehydrogenase (G6PD) deficiency which has been shown to be closely linked to color blindness on the X-chromosome (7). However, there are also reports of linkage to the Xg blood antigen locus (8), which is generally considered so distant from deutan-protan region on X-chromosome that no intermediate marker can be linked to both loci (9,10).…”

mentioning

confidence: 79%

Linkage between X‐chromosome markers and manic‐depressive illness

Zompo

Bocchetta

Goldin

et al. 1984

Acta Psychiatr Scand

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Pedigrees of manic-depressive patients in treatment at the Lithium Clinic of the Institute of Clinical Pharmacology, University of Cagliari, were evaluated for linkage between major affective illness and the protan-deutan-glucose-6-phosphate-dehydrogenase region of the X-chromosome. Two informative pedigrees were found, investigated and analyzed for linkage using a multigenerational model and considering age-dependent penetrance. The results are consistent with the hypothesis of X-linkage in major affective illness.

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mentioning

confidence: 79%

Linkage between X‐chromosome markers and manic‐depressive illness

Zompo

Bocchetta

Goldin

et al. 1984

Acta Psychiatr Scand

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“…Evidence for linkage between G6PD deficiency and color blindness has been found in a number of locations, including Israel [16], the United States of America [17], and Sardinia [12,18,19]. However, many studies have revealed no association (positive or negative), presumably because the linkage disequilibrium is weak (so recombination breaks down any relationships) or because the phenotypes have more than one common cause in the studied population.…”

Section: Discussionmentioning

confidence: 99%

Exploring the association between glucose-6-phosphate dehydrogenase deficiency and color blindness in Southeast Asia

et al. 2017

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Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency poses problems for the treatment of Plasmodium vivax malaria, as the 8-aminoquinolines, used to eliminate liver hypnozoites, cause hemolysis in G6PD-deficient individuals. G6PD deficiency is an X-linked disorder that can be linked to other conditions determined by genes located nearby on the Xq28 band of the X chromosome, including red-green color blindness. A Karen population has undergone recent positive selection for G6PD deficiency with extended long-range haplotypes around G6PD. Objectives: To determine the association between G6PD deficiency and color blindness in a Karen population that lives in an area endemic for P. vivax and that is already known to display long-range haplotypes around G6PD because of the recent positive selection of the Mahidol G6PD deficiency allele. Method: We examined the phenotypic association between G6PD deficiency and color blindness. Results: Of 186 male participants successfully assessed for color blindness using the Ishihara 38 plates test, 10 (5.4%) were red-green color blind, while 1 individual was totally color blind. There was a nonsignificant trend toward negative association (repulsion) between G6PD deficiency and red-green color blindness; 34/35 individuals with the Mahidol variant of G6PD deficiency had normal vision, while 9 of the 10 red-green color blind individuals were G6PD normal. A single individual had both conditions. Conclusions: Despite the long-range haplotype associated with G6PD deficiency in this population, color blindness is not informative in terms of predicting G6PD deficiency in this population. The most likely explanation is that there are multiple genetic causes of red-green color blindness.

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“…This led to a maximum likelihood estimate (mle) of the recombination frequency between the two loci of 8% with 90% fiducial limits between 3.5% and 32%. If the five recombinant sibs between MOM-X and protanomaly are added to the above data (a reasonable decision in view of the very close linkage known to exist between G6PD and the protan locus [Porter et al, 1962;Siniscalco et al, 1964]), the combined estimate of the recombination frequency becomes 6% and its fiducial limits, respectively, 2.5% and 19.5% (Fig 1). Since the X-linkage of both traits compared *MOM-X, pedigrees segregating for X-linked MR associated with FS and MO: RENP, severe X-linked MR without FS associated with short stature.…”

Section: Linkage Datamentioning

confidence: 99%

Brief report: Linkage between G6PD and fragile‐X syndrome

et al. 1983

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Eighteen Sardinian pedigrees segregating for the X-fragile site syndrome were studied with respect to the segregation of the fragile site (FS) at Xq28, mental retardation, and macro-orchidism. No exception was found in the association of this symptomatic triad (MOM-X) in 41 out of 42 patients examined. The exceptional individual had micro- rather than macro-orchidism and was found to have a 47, XXY sex chromosome complement. In six informative sibships, the MOM-X syndrome was found to segregate in close linkage association with G6PD-deficiency or protan colorblindness. The maximum likelihood estimate of recombination if 6% with 90% fiducial limits between 2.5 and 19.5% and an odds ratio in favor of measurable linkage of 428:1. However, no hint of measurable linkage was found in six pedigrees segregating for G6PD and the Renpenning syndrome or other unspecified types of X-linked mental retardation. These data give strong support to the generally held hypothesis that the FS at Zq28, characteristic of the MOM-X syndrome, is a direct expression of a genetic change in the same chromosomal region. They also clearly suggest that X-linked MR without FS may be the result of different allelic mutations at the same locus.

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Recombination between Protan and Deutan Genes ; Data on their Relative Positions in Respect of the G6PD Locus

Cited by 28 publications

References 5 publications

Linkage between X‐chromosome markers and manic‐depressive illness

Linkage between X‐chromosome markers and manic‐depressive illness

Exploring the association between glucose-6-phosphate dehydrogenase deficiency and color blindness in Southeast Asia

Brief report: Linkage between G6PD and fragile‐X syndrome

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