Hla and Congenital Adrenal Hyperplasia Linkage Confirmed

Price, David A.; Klouda, P. T.; Harris, Rodney; Weitkamp, Lowell R.; Bryson, Michael F.; Bacon, G. E.

doi:10.1016/s0140-6736(78)90700-6

Cited by 50 publications

(8 citation statements)

References 10 publications

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“…Dupont et al (1977) have established that this form of CAH is in close linkage with the B locus of the HLA system. These findings have been confirmed by others (Price et al 1978, Weitkamp et al 1978. and it is suggested that there is n o evidence that the genes for the salt-loosing This work was in part supported by a special research grant kindly donated by the Shaklee family, and grants from Misrad Haklita, State of Israel, U S .…”

supporting

confidence: 77%

HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

et al. 1981

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HLA phenotypes were studied in nine Jewish families, originating from Iran, with 18 individuals affected with a selective aldosterone biosynthetic defect and 12 healthy siblings. This disorder is inherited through an autosomal recessive gene and parents were consanguineously related in eight out of nine sibships. Family analysis showed that 18 affected individuals carried 20 different haplotypes and only two patients were homozygous for a haplotype. Yet a peak lod score of 1.128 was obtained for the recombinant fraction of 0.05 and thus linkage to HLA cannot be ruled out.

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supporting

confidence: 77%

HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

et al. 1981

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“…Subsequently, this assay has been widely used for prenatal diagnosis in second-trimester amniotic fluid (Forest, 1985;Pang et al, 1985;Couillin and Raux-Demay, 1986). Dupont et al (1977) and other groups (Price et al, 1978;Couillin et al, 1982) have demonstrated that 21 -OH deficiency behaves like an autosomal recessive trait in close linkage with the HLA-B locus. Additional studies of families with intra-HLA recombinant haplotypes suggested that the 2 1-OH deficiency gene is located between HLA-B and HLA-D (Levine et al, 1978).…”

Section: Introductionmentioning

confidence: 92%

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

et al. 1989

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The results of early prenatal diagnoses of congenital adrenal hyperplasia are reported. The determination of 17-hydroxyprogesterone values in amniotic fluid taken transabdominally at 11 weeks of gestation enabled prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency. There is a clear-cut difference between normal and pathological values at that time of pregnancy. This method of diagnosis can be combined with genotyping of the fetus by HLA-DNA probes on chorionic villus sampling or can be used alone. Prenatal diagnosis with a 21-OH probe is possible when a preliminary study has demonstrated that the index case is homozygous for the deletion.

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“…Family studies have shown that the disorder is linked to the major histocompatibity (HLA) complex on the short arm of chromosome 6 (Dupont et al 1977;Price et al 1978) and a correlation of certain HLA antigens with particular forms of the disorder has been reported, notably that between the normally rare HLA-Bw47 antigen and the salt-wasting form. Subsequent molecular genetic analyses have located the normally functional 21-hydroxylase gene CYP21B and a highly homologous pseudogene CYP21A in the class III region of the HLA complex (White et al 1985;Higashi et al 1986;Rodrigues et al 1987).…”

Section: Introductionmentioning

confidence: 99%

Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families

et al. 1991

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We have analysed fifteen classical 21-hydroxylase deficiency families from throughout Southern Ireland and report the serologically defined HLA-A, HLA-B, HLA-Cw, HLA-DR, C4A and C4B polymorphisms that characterize the inferred disease haplotypes. Additionally, we have used a combination of short and long range restriction mapping procedures in order to characterize the CYP21/C4 gene organization associated with individual serologically defined haplotypes. The results obtained indicate that disease haplotypes are characterized by a high frequency (33%) of CYP21B gene deletion and 8 out of 10 such deletion haplotypes are represented by the extended haplotype HLA-DR1, C4BQo, C4A3, HLA-B40(w60), HLA-Cw3, HLA-A3. Large scale length polymorphism in the CYP21/C4 gene cluster was found to conform strictly to a variable number of tandem repeats model with 4 alleles being detected. Disease haplotypes in which defective CYP21B gene expression is inferred to result from pathological point mutations show extensive diversity of associated HLA markers and include two examples of the extended HLA haplotype HLA-DR3, B8, Cw7, A1 haplotype, which has previously been reported to be negatively associated with 21-hydroxylase deficiency. One unusual disease haplotype has two CYP21 + C4 units, both of which appear to contain CYP21B-like genes.

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Hla and Congenital Adrenal Hyperplasia Linkage Confirmed

Cited by 50 publications

References 10 publications

HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

HLA in a Selective Aldosterone Biosynthetic Defect due to Type 2 Corticosterone Methyl‐Oxidase Deficiency

Early prenatal diagnosis of 21‐hydroxylase deficiency using amniotic fluid 17‐hydroxyprogesterone determination and DNA probes

Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families

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