Report of the committee on the genetic constitution of chromosome 6

Lr, Weitkamp; Lu, Lamm

doi:10.1159/000131693

Cited by 50 publications

(6 citation statements)

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“…To obtain Ne, we next considered haplotype data on the HLA-A, -C, -B, -DR, and -Bf loci from the histocompatibility testing workshop (29) and calculated A values for all pairwise comparisons. Since the interlocus recombination frequencies for this gene cluster are known (30), we performed an identical regression analysis, but this time to compute Ne. Our analysis of haplotype data from European Caucasians, Japanese, African Blacks, and U.S.…”

Section: Resultsmentioning

confidence: 99%

“…At the insulin locus, we have calculated the recombination frequency to be 24 times greater than expected (95% confidence limits [16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] Jeffreys et al (35) have recently reported that the human genome contains many dispersed tandem-repetitive regions that share a 10-to 15-bp core sequence similar to the generalized recombination signal X (5' GCTGGTGG 3') of Escherichia coli. These repetitive sequences show similarity to the tandem repeats of immunoglobulins, embryonic aglobin, and insulin.…”

Section: Discussionmentioning

confidence: 99%

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Evidence for increased recombination near the human insulin gene: implication for disease association studies.

Chakravarti

Elbein

Permutt

1986

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

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Evidence for increased recombination near the human insulin gene: implication for disease association studies.

Chakravarti

Elbein

Permutt

1986

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

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“…Genetic mapping by somatic cell hybridization (3-7) and by the segregation of unique chromosomal rearrangements involving the MHC in families (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19) has permitted localization of the serologically polymorphic 45,000-dalton glycoproteins of the class I genes (HLA-A, -B, and -C) to the short arm of human chromosome 6, with the shortest region of overlap being the 6p21 band (7,17). Associated with the polymorphic glycoproteins of the HLA-A, -B, and -C antigens is a nonglycosylated 12,000-dalton invariant chain, 82-microglobulin, that has been assigned to human chromosome 15 (20,21).…”

Section: Introductionmentioning

confidence: 99%

“…Data on recombination within the HLA complex and with closely linked markers such as glyoxylase 1 (GLO 1) have permitted inferences to be drawn about the order and map distances between marker loci on the proximal portion of the short arm of chromosome 6, as follows: GLO 1-4 centimorgans (cM)-HLA-DR-0.3 cM-BF, C4B, C4A, C2-0.7 cM-HLA-B-0.1 cM-HLA-C-0.7 cM-HLA-A (16)(17)(18).…”

mentioning

confidence: 99%

Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization.

Kirsch¹,

Nance²,

Evans³

et al. 1984

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

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We have determined the localization and orientation of two genetic probes within the human major histocompatibility complex by chromosomal in situ hybridization.Our data indicate that a cloned genomic probe cross-hybridizing to HLA-A, -B, and -C heavy chain loci is homologous to sequences located on chromosome 6 at band p21.3 while a subclone of the genomic HLA-DR a-chain gene corresponding to the nonpolymorphic p34 protein is homologous to sequences in band 6p21.1. Our data suggest that this technique may permit the estimation of map distances between linked gene loci, assuming a uniform frequency of map units in the human genome. The relative positions of these genes was confirmed in a mother and son carrying a chromosome rearrangement involving 6p and 14p in which the sequences hybridizing to a DR a-chain genomic clone were found at the distal end of the 6p-chromosome [der(6)] while the sequences hybridizing to the HLA-A, -B, -C a-chain probe were found in the 14p+ chromosome [der(14)].The major histocompatibility complex (MHC) in humans is a cluster of at least three gene families encoding cell surface glycoproteins-i.e., genes for class I (HLA-A, -B, and -C) and class II (HLA-DR) antigens in addition to class III genes (complement factors)-and spans 2-3 x 103 kilobase pairs (kb) of DNA (1, 2). Genetic mapping by somatic cell hybridization (3-7) and by the segregation of unique chromosomal rearrangements involving the MHC in families (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19) has permitted localization of the serologically polymorphic 45,000-dalton glycoproteins of the class I genes (HLA-A, -B, and -C) to the short arm of human chromosome 6, with the shortest region of overlap being the 6p21 band (7,17). Associated with the polymorphic glycoproteins of the HLA-A, -B, and -C antigens is a nonglycosylated 12,000-dalton invariant chain, 82-microglobulin, that has been assigned to human chromosome 15 (20,21). The class II genes, or the immune response genes, consist of heterodimers composed of a 34,000-dalton (HLA-DR a) glycoprotein for which no electrophoretic polymorphisms have been demonstrated and a polymorphic 29,000-dalton (HLA-DR (3) glycopeptide (21)(22)(23)(24)(25). Polymorphism of the HLA-DR , gene has permitted a regional assignment of this locus to chromosome 6 proximal to 6p22.4 by a family study (15).Recently, the HLA-DR a-chain locus has been mapped by using somatic cell hybrids (26) and, furthermore, this assignment has been refined to the region 6p2105-6p23 (27) by study of genomic blotting patterns in cell lines containing individual chromosomal deletions of the short arm of chromosome 6. Data on recombination within the HLA complex and with closely linked markers such as glyoxylase 1 (GLO 1) have permitted inferences to be drawn about the order and map distances between marker loci on the proximal portion of the short arm of chromosome 6, as follows: GLO 1-4 centimorgans (cM)-HLA-DR-0.3 cM-BF, C4B, C4A, C2-0.7 cM-HLA-B-0.1 cM-HLA-C-0.7 cM-HLA-A (16-18).Improvements in chromosomal i...

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“…C4, the fourth component of the human complement system, has been mapped by family studies to the region between HLA-DR and the class I loci (16). Recently, genomic clones for all four class III major histocompatibility complex genes, C4A, C4B, C2, and FB (the gene encoding factor B), have been found to be located within 30 kb of one another (17).…”

Section: Methodsmentioning

confidence: 99%