Prenatal diagnosis of 21‐hydroxylase deficiency by rflp analysis of the 21‐hydroxylase, complement C4, and HLA class II genes

Keller, E.; Andreas, A.; Scholz, Siegfried; Dörr, Helmuth-G.; Knorr, Dietrich; Albert, E. D.

doi:10.1002/pd.1970111104

Prenatal Diagnosis

1991

DOI: 10.1002/pd.1970111104

|View full text |Cite

Prenatal diagnosis of 21‐hydroxylase deficiency by rflp analysis of the 21‐hydroxylase, complement C4, and HLA class II genes

E. Keller

A. Andreas

Siegfried Scholz

et al.

Abstract: In 19 pregnancies at risk for 21-hydroxylase deficiency (210HD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymc Taq 1 and EcoRI and the DNA probes specific for the 210H genes, the closely linke complement C4 genes and the highly polymorphic HLA class I1 genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 210H probe al… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

1992

2000

Publication Types

Select...

Article4

Relationship

Self Cite0

Independent4

Authors

Journals

Cited by 4 publications

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes

Bettinotti

Hartung²,

Deicher³

et al. 1993

Immunogenetics

View full text Add to dashboard Cite

We investigated the Nco I restriction fragment length polymorphism (RFLP) of the tumor necrosis factor beta (TNFB) gene in 173 patients with systemic lupus erythematosus (SLE), 192 unrelated healthy controls, and eleven panel families, all of German origin. The phenotype frequency of the TNFB*1 allele was significantly increased in patients compared to controls (63.6% vs 47.1%, RR = 1.96, p < 0.002). The results of a two-point haplotype statistical analysis between TNFB and HLA alleles show that there is linkage disequilibrium between TNFB*1 and HLA-A1, Cw7, B8, DR3, DQ2, and C4A DE. The frequency of TNFB*1 was compared in SLE patients and controls in the presence or absence of each of these alleles. TNFB*1 is increased in patients over controls only in the presence of the mentioned alleles. Therefore, the whole haplotype A1, Cw7, B8, TNFB*1, C4A DE, DR3, DQ2 is increased in patients and it cannot be determined which of the genes carried by this haplotype is responsible for the susceptibility to SLE. In addition, two-locus associations were analyzed in 192 unrelated healthy controls for TNFB and class I alleles typed by serology, and for TNFB and class II alleles typed by polymerase chain reaction/oligonucleotide probes. We found positive linkage disequilibrium between TNFB*1 and the following alleles: HLA-A24, HLA-B8, DRB1*0301, DRB1*1104, DRB1*1302, DQA1*0501, DQB1*0201, DQB1*0604, and DPB1*0101. TNFB*2 is associated with HLA-B7, DRB1*1501, and DQB1*0602.

show abstract

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes

Bettinotti

Hartung²,

Deicher³

et al. 1993

Immunogenetics

View full text Add to dashboard Cite

show abstract

Pvu II polymorphism in the primate homologue of the mouse B144 (LST-1)

Baey¹,

Holzinger²,

Scholz³

et al. 1995

Human Immunology

View full text Add to dashboard Cite

Identification of Molecular Defects Causing Congenital Adrenal Hyperplasia by Cloning and Differential Hybridization of Polymerase Chain Reaction-Amplified 21-Hydroxylase (CYP21) Genes

Helmberg

Tabarelli²,

Ma³

et al. 1992

DNA and Cell Biology

View full text Add to dashboard Cite

Congenital adrenal hyperplasia (CAH), one of the most common autosomal recessive disorders, is caused primarily by defects in the gene encoding steroid 21-hydroxylase, CYP21B. The molecular diagnosis of CAH, important for prenatal diagnosis, carrier detection, and a better understanding of the various clinical CAH forms, is complicated by the close proximity of a highly similar pseudogene, CYP21A, containing (and probably donating, by gene conversion-like events) most of the defects underlying CAH. In this study, we describe an efficient strategy to identify molecular defects causing CAH: polymerase chain reaction-amplified CYP21 loci are cloned and hybridized to a set of oligonucleotides, allowing rapid and allele-specific identification of all known CYP21B mutations relevant to 21-hydroxylase function. Possible new mutations can be identified by subsequent nucleic acid sequencing provided they reside within the cloned CYP21B fragment (from the TATA box to the 8th of the 10 CYP21B gene exons). Using this method, the CYP21B gene mutations of a heterozygous carrier and 25 CAH patients have been identified by oligonucleotide hybridization. All disease haplotypes seem to have been generated by recombinational events involving the CYP21A pseudogene. In 5 individuals, these data were subsequently verified by nucleic acid sequencing. The procedure can be used for diagnostic applications and may facilitate identification of new CYP21B defects.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Prenatal diagnosis of 21‐hydroxylase deficiency by rflp analysis of the 21‐hydroxylase, complement C4, and HLA class II genes

Cited by 4 publications

References 33 publications

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes

Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes

Pvu II polymorphism in the primate homologue of the mouse B144 (LST-1)

Identification of Molecular Defects Causing Congenital Adrenal Hyperplasia by Cloning and Differential Hybridization of Polymerase Chain Reaction-Amplified 21-Hydroxylase (CYP21) Genes

Contact Info

Product

Resources

About