Hla Typing of Amniotic-Fluid Cells Applied to Prenatal Diagnosis of Congenital Adrenal Hyperplasia

Couillin, P.; Nicolas, H; Boué, J; Boué, A

doi:10.1016/s0140-6736(79)92966-0

Cited by 40 publications

(10 citation statements)

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“…In contrast. in families with at least one well diagnosed patient, the genetic linkage allows the detection of heterozygous carriers, and a prenatal diagnosis (Couillin et al 1979. 198 I .…”

Section: Discussionmentioning

confidence: 99%

HLA and 21 hydroxylase deficiency: (congenital and late onset adrenal hyperplasia):in the French population

et al. 1982

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Section: Discussionmentioning

confidence: 99%

HLA and 21 hydroxylase deficiency: (congenital and late onset adrenal hyperplasia):in the French population

et al. 1982

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“…Fetal tissues including the placenta ) and foetal cells from as early as the 6th week of pregnancy (Seigler & Metzgar, 1970) have been shown to express HLA antigens. HLA typing of cultured amniotic cells has been applied to the prenatal diagnosis of congenital adrenal hyperplasia (Couillin et al 1979, Pollack et al 1979) and also in cases of disputed paternity. Membrane bound proteins may be released into the surrounding medium, probably due to some autolytic mechanism (Billing et al 1977).…”

Section: Discussionmentioning

confidence: 99%

Detection, isolation and characterization of cell free HLA A and B antigens from human amniotic fluid

et al. 1982

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Cell‐free HLA A and B antigens, paternal and maternal, have been detected in human amniotic fluids obtained from women at 16‐18 weeks’gestation. Fractionation of amniotic fluid samples on sephadex showed that HLA A and B antigen activity was mainly in the 40,000 to 70,000 mol. wt. fractions. Lentil lectin sepharose 4B affinity chromatography of 30,000 to 70,000 sephadex molecular weight fraction of amniotic fluids isolated proteins which gave 2 bands, M and N, on discontinuous polyacrylamide gel electrophoresis (disc PAGE without SDS). SDS disc PAGE of the LcH bound glycoproteins recovered from amniotic fluids indicated 4 main protein bands approximately 12,900, 32,000, 52,600 and 78,500 mol. wt. Schiff's stain of the SDS gels showed that all the proteins except the 12,900 mol. wt. polypeptide contained carbohydrate. It was suggested that the 12,900 and 32,000 mol. wt. proteins obtained on disc PAGE gels represented the 2 subunits of the HLA A and B antigen molecule, i.e., β2,‐microglobulin and the allospecific heavy chains, similar to the papain‐solubilized moiety of membrane antigens. In the absence of SDS the 2 polypeptides migrate in polyacrylamide gels as l protein band M, representing the intact (undissociated) antigen molecules. Enzyme linked immunosorbent assays were proposed for the estimation of cell‐free HLA antigens.

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“…Thus it is available in very few obstetrical centres. Therefore, fetal blood sampling is considered only for those diseases which are not detectable in cultured amniotic cells, such as haemophilia [25], severe combined immune deficiency without known enzyme of cultured amniotic cells [30], Difficulties might arise if one of the parents is homozy gous for the HLA antigens, or if crossing-over occurs within the HLA gene clusters in one of the parental gametes. The assay of androgen precursors in cell-free amniotic fluid is avail able today through a sensitive and reliable method and will greatly help to settle the matter in such instances [31].…”

Section: Prenatal Diagnosis Through Analysis Of Fetal Bloodmentioning

confidence: 99%

Prenatal Diagnosis of Inborn Errors of Metabolism

Vámos¹,

Liebaers²

1984

Enzyme

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The evolution of the techniques aiming at the prenatal diagnosis of inborn metabolic disorders has closely reflected the progress in the knowledge of their underlying molecular defects. Initially, abnormal metabolites have been looked for in amniotic fluid. Recently, improved techniques of detection have permitted fast and reliable prenatal diagnoses through biochemical studies of cell-free amniotic fluid. Presently, the most widely used approach is the search for the defective gene product in cultured amniotic cells obtained through amniocentesis. Because of its relative safety, this procedure should be recommended, provided three prerequisites are met: a most accurate diagnosis of the index patient, the knowledge of the defective enzyme and its expression in cultured cells. For a correct interpretation of the results, cell culture parameters as well as specific activities of the mutant enzyme in the index case and the parental cells must be taken into account. Fetal blood sampling is a valuable alternative for some of the genetic disorders that cannot be detected in cultured amniocytes. The recently developed technique of chorion biopsy enables now to sample fetal cells during the first trimester of gestation. Meanwhile, the progress in DNA technology has uncovered exciting perspectives for the prenatal diagnosis of monogenic disorders at the gene level. Restriction endonuclease mapping has enabled to diagnose prenatally some forms of haemoglobinopathies, first through the polymorphism of sequences adjacent to the ß-globin gene, and now for the sickle-cell disease, by direct identification of the mutation.

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Hla Typing of Amniotic-Fluid Cells Applied to Prenatal Diagnosis of Congenital Adrenal Hyperplasia

Cited by 40 publications

References 9 publications

HLA and 21 hydroxylase deficiency: (congenital and late onset adrenal hyperplasia):in the French population

HLA and 21 hydroxylase deficiency: (congenital and late onset adrenal hyperplasia):in the French population

Detection, isolation and characterization of cell free HLA A and B antigens from human amniotic fluid

Prenatal Diagnosis of Inborn Errors of Metabolism

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