Chromosome 6: linkage of the eighth component of complement (C8) to the histocompatibility region (HLA)

Merritt, A. Donald; Petersen, Bruce H.; Biegel, Angenieta A.; Meyers, Deborah A.; Brooks, G.F.; Hodes, M. E.

doi:10.1159/000130624

Cited by 16 publications

(7 citation statements)

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“…' This association has been fouind most commonly in patients with homozygouis and heterozygous C2 deficiencies (1,3) and in txvo patients wvitlh defects of the terminal membrane attack complex (C.5-9) (4, 5). 2 Hereditary deficiency of' the eiglhth component of complement has been previously described in one patient with disseminated gonococcemia (6,7). We report here a second patient with C8 deficiency and associated SLE, the immunochemical and ftunctional characteristics of the patient's serum, and the probable mode of inheritance of the defect.…”

Section: Soutthwestern Medical School Dallas Texas 75235mentioning

confidence: 72%

Absence of the Eighth Component of Complement in Association with Systemic Lupus Erythematosus-Like Disease

Jasin¹

1977

J. Clin. Invest.

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Section: Soutthwestern Medical School Dallas Texas 75235mentioning

confidence: 72%

Absence of the Eighth Component of Complement in Association with Systemic Lupus Erythematosus-Like Disease

Jasin¹

1977

J. Clin. Invest.

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“…However, there is strong evidence for genetic linkage for the second (9-11) and fourth (13,16) components of the classical pathway and for factor B (12) of the alternate pathway, whereas for C8 the reported results are equivocal (17,18).…”

Section: Discussionmentioning

confidence: 99%

Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

Delage¹,

Bergeron²,

Simard³

et al. 1977

J. Clin. Invest.

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A B S T R A C T The serum of a 44-yr-old woman of French-Canadian descent having a B-27 positive ankylosing spondylitis was deficient in the seventh component of complement (C7) as determined by hemolytic and immunnochemical methods. No inhibitor against C7 was detected, and the levels of all other complement components were normal. No deficiency in the opsonic activity of the serum was found, and the results of basic coagulation studies of the plasma were normal. On investigation of the patient's family, two sisters were found to have the same deficiency but were otherwise in good health. The seven other siblings were heterozygous for C7 deficiency, while the paternal aunt had a normal C7 level. In the third generation, six children ofthe three homozygous sisters and five children of heterozygotes were available for testing. Studies of the HLA antigens in all the 22 subjects and in three spouses indicated no close linkage between the C7 deficiency and the HLA system. In addition, the simultaneous occurrence of two hereditary complement deficiencies (C2 and C7) was discovered in one family of this remarkable kindred.

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“…Studies of the polymorphism of C4 and the C4-deficiency state have led to the conclusion that C4 is linked to HLA (5-7, 26, 27) and corresponding studies of the relevant proteins that C3 (28), C5 (29,30), C6 (31,32), and C7 (33,34,10) are not closely linked to HLA. Two studies of the relationship of C8 deficiency to HLA in large families have been described (35,13). In the first study (35), it was concluded that C8 was closely linked to HLA.…”

mentioning

confidence: 99%

“…Two studies of the relationship of C8 deficiency to HLA in large families have been described (35,13). In the first study (35), it was concluded that C8 was closely linked to HLA. In the second family (13), C8 deficiency was associated with several different HLA types in three homozygous deficient subjects, and it was concluded that C8 was not closely linked to HLA.…”

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confidence: 99%

Genetic control of the eighth component of complement.

Raum¹,

Spence

Balavitch

et al. 1979

J. Clin. Invest.

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A B S T R A C T Using isoelectric focusing in polyacrylamide gel and a hemolytic assay for development of patterns, extensive structural polymorphism in human C8 has been delineated. Two C8 allotypes have been determined for two previously studied familes, each with a homozygous C8-deficient propositus. This study suggests that C8 deficiency is a silent or null allele of the C8 structural locus, and that half normal levels of C8 cannot be used as a single criterion for the establishment of heterozygous C8 deficiency. C8 allotypes, as well as 18 other autosomal markers, were also determined for 24 familes. The C8 structural locus is not closely linked to these markers, including the human histocompatibility loci complex.

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Chromosome 6: linkage of the eighth component of complement (C8) to the histocompatibility region (HLA)

Cited by 16 publications

References 0 publications

Absence of the Eighth Component of Complement in Association with Systemic Lupus Erythematosus-Like Disease

Absence of the Eighth Component of Complement in Association with Systemic Lupus Erythematosus-Like Disease

Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

Genetic control of the eighth component of complement.

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