Abstract
The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for deficiency of the second component of complement (C2) was studied in families of patients with connective tissue disorders. Patients were selected because they were heterozygous or homozygous for C2 deficiency. 12 families with 15 matings informative for C2 deficiency were found. Of 57 informative meioses, two crossovers were noted between the C2 deficiency gene and the HLA B gene, with a recombinant fraction of 0.035. A lod score of 13 was calculated for linkage between C2 deficiency and HLA B at a maximum likelihood value of the recombinant fraction of 0.04. 18 families with 21 informative matings for both properdin Factor B allotype and HLA B were found. Of 72 informative meioses, three recombinants were found, giving a recombinant fraction of 0.042. A lod score of 16 between HLA B and Factor B allotypes was calculated at a maximum likelihood value of the recombinant fraction of 0.04. A crossover was shown to have occurred between genes for Factor B and HL A D, in which HLA D segregated with HLA A and B. These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genes is HLA A, B, D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3-5 centimorgans from the HLA A and HLA B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1240-1248 |
| Number of pages | 9 |
| Journal | Journal of Clinical Investigation |
| Volume | 58 |
| Issue number | 5 |
| State | Published - 1976 |
| Externally published | Yes |
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ASJC Scopus subject areas
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The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement. / Raum, Donald Douglas; Glass, D.; Carpenter, C. B.; Alper, C. A.; Schur, P. H.
In: Journal of Clinical Investigation, Vol. 58, No. 5, 1976, p. 1240-1248.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The chromosomal order of genes controlling the major histocompatibility complex, properdin factor B, and deficiency of the second component of complement
AU - Raum, Donald Douglas
AU - Glass, D.
AU - Carpenter, C. B.
AU - Alper, C. A.
AU - Schur, P. H.
PY - 1976
Y1 - 1976
N2 - The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for deficiency of the second component of complement (C2) was studied in families of patients with connective tissue disorders. Patients were selected because they were heterozygous or homozygous for C2 deficiency. 12 families with 15 matings informative for C2 deficiency were found. Of 57 informative meioses, two crossovers were noted between the C2 deficiency gene and the HLA B gene, with a recombinant fraction of 0.035. A lod score of 13 was calculated for linkage between C2 deficiency and HLA B at a maximum likelihood value of the recombinant fraction of 0.04. 18 families with 21 informative matings for both properdin Factor B allotype and HLA B were found. Of 72 informative meioses, three recombinants were found, giving a recombinant fraction of 0.042. A lod score of 16 between HLA B and Factor B allotypes was calculated at a maximum likelihood value of the recombinant fraction of 0.04. A crossover was shown to have occurred between genes for Factor B and HL A D, in which HLA D segregated with HLA A and B. These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genes is HLA A, B, D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3-5 centimorgans from the HLA A and HLA B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another.
AB - The relationship of the genes coding for HLA to those coding for properdin Factor B allotypes and for deficiency of the second component of complement (C2) was studied in families of patients with connective tissue disorders. Patients were selected because they were heterozygous or homozygous for C2 deficiency. 12 families with 15 matings informative for C2 deficiency were found. Of 57 informative meioses, two crossovers were noted between the C2 deficiency gene and the HLA B gene, with a recombinant fraction of 0.035. A lod score of 13 was calculated for linkage between C2 deficiency and HLA B at a maximum likelihood value of the recombinant fraction of 0.04. 18 families with 21 informative matings for both properdin Factor B allotype and HLA B were found. Of 72 informative meioses, three recombinants were found, giving a recombinant fraction of 0.042. A lod score of 16 between HLA B and Factor B allotypes was calculated at a maximum likelihood value of the recombinant fraction of 0.04. A crossover was shown to have occurred between genes for Factor B and HL A D, in which HLA D segregated with HLA A and B. These studies suggest that the genes for Factor B and C2 deficiency are located outside those for HLA, that the order of genes is HLA A, B, D, Factor B allotype, C2 deficiency, that the genes coding for C2 deficiency and Factor B allotypes are approximately 3-5 centimorgans from the HLA A and HLA B loci, and that the apparent lack of recombinants between the Factor B gene and C2 deficiency gene suggests that these two genes lie in close proximity to one another.
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M3 - Article
VL - 58
SP - 1240
EP - 1248
JO - Journal of Clinical Investigation
JF - Journal of Clinical Investigation
SN - 0021-9738
IS - 5
ER -