Immunoglobulins and the X-chromosome

Rhodes, Katerina; Markham, Rebecca; Maxwell, Paula; Monk-Jones, M. E.

doi:10.1136/bmj.3.5668.439

Cited by 105 publications

(45 citation statements)

References 6 publications

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“…To test this hypothe sis, we reanalyzed the data presented by Rhodes el al. [17] and by Wood el cd. [20] assuming that if X-linked genes for regula tion of IgM concentration do exist, their ef fects are additive (table II).…”

Section: Discussionmentioning

confidence: 99%

“…IgM mean levels were compared among males Rhodes et al [17] and Wood et al [20] did not report values for IgM levels in their patients. Therefore, the values here are extrapolations of their published graphs.…”

Section: Methodsmentioning

confidence: 99%

“…Several studies have proposed that the human X chromosome carries genes that have a regulatory effect on serum immuno globulin M (IgM) concentration [1, 7-9, 17, 19, 20], Support for this postulate comes from two types of studies: (1) evaluation of individuals with normal and abnormal num ber of X chromosomes [17,20] and (2) analysis of intrafamilial correlations [7,8]. In a recent paper [9], the parent-offspring correlations of IgM concentrations were es timated in an attempt to evaluate the results presented earlier by Grundbacher [7].…”

Section: Introductionmentioning

confidence: 99%

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Analysis of Intrafamilial Correlations, Serum Levels of IGM and the Human X-Chromosome

Escobar¹,

Bixler²

1979

Hum Hered

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Analysis of Intrafamilial Correlations, Serum Levels of IGM and the Human X-Chromosome

Escobar¹,

Bixler²

1979

Hum Hered

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“…These observations suggest that a number of genes or gene families on the X chromosome are involved in immunoregulation. The existence of such genes has been predicted by several studies that implicate X chromosome genes in human immune function (27)(28)(29) and by the recent cloning of an X-linked gene family linked to the murine immunodeficiency disorder xid (30). Thus, the ultimate significance of localization for WAS is a first step toward the identification of the gene or genes on the human X chromosome involved in regulation of lymphocyte development and function.…”

Section: Discussionmentioning

confidence: 99%

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

Peacocke¹,

Siminovitch²

1987

Proc. Natl. Acad. Sci. U.S.A.

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The The immune defects in WAS are poorly understood but include depressed serum IgM, elevated IgA and IgE, lack of response to polysaccharide antigens and thus absent isohaemagglutinins, reduced T-cell functions such as delayed hypersensitivity and graft rejection, and production of low numbers of abnormally small platelets that are rapidly eliminated, resulting in thrombocytopenia (5, 6). Despite extensive research efforts, the underlying biochemical defect and molecular basis of WAS remain unknown. Selective inactivation of the X chromosome carrying the WAS gene renders the heterozygous females serologically and clinically normal, thereby precluding detection of the carrier state (7). Thus, no direct test is available for prenatal diagnosis or carrier screening.In the absence of information on the primary product of a gene, one approach to locating and eventually cloning the gene is to use restriction fragment length polymorphic (RFLP) markers in conjunction with linkage analysis to study families in which the disease segregates.As a first step in providing diagnostic information for screening and prenatal diagnosis, and in identifying the primary molecular defect in WAS, we have used genetic linkage analysis with a series of X chromosome-specific cloned DNA DNA Extraction and Analysis. Total genomic DNA was extracted from peripheral blood or lymphoblastoid cell lines. Ten micrograms ofDNA was digested to completion with the appropriate restriction endonucleases, size-fractionated over 1% agarose gels, and transferred by the method of Southern to nylon membranes (8).Probes. Six X-chromosome-specific cloned DNA probes, corresponding to loci DXYS1, DXS1, DXS14, DXS7, DXS84, and OTC, were used in the linkage analysis (9)(10)(11)(12)(13)(14)(15)(16)(17). As shown in Table 1, each probe detects two allelic fragments, with the exception of probe pHO731, which defines a four-allele Msp I polymorphism at the ornithine transcarbamoylase locus (16). For hybridization, the probes were radiolabeled by random priming to a specific activity of 2 x 101 cpm/pgg (18

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“…Be cause females have higher levels of IgM than males, and because there exists a rela tionship between the number of X chro mosomes and IgM [Rhodes et al, 1969], a single X-linked dominant gene has been hypothesized for the transmission of IgM [Grundbacher, 1972]. The X-linked hypo thesis has not, however, been formally tested.…”

Section: Introductionmentioning

confidence: 99%

Commingling in the Distributions of Immunoglobulin Levels

et al. 1989

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Commingling in the distributions of five immunoglobulins from a Canadian sample of 810 Caucasians and IgE from a US sample of 935 Caucasians was investigated. For both the Canadian and US samples significant commingling was found in the child’s but not the adult’s IgE distribution. Contrary to expectations based upon the major gene hypothesis for IgM, we found no evidence for commingling in the IgM distribution. Finally, the distributions of IgA, IgD and IgG all evidenced significant commingling that may be the result of a single gene effect or the operation of a discrete environmental effect.

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Immunoglobulins and the X-chromosome

Cited by 105 publications

References 6 publications

Analysis of Intrafamilial Correlations, Serum Levels of IGM and the Human X-Chromosome

Analysis of Intrafamilial Correlations, Serum Levels of IGM and the Human X-Chromosome

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

Commingling in the Distributions of Immunoglobulin Levels

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