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Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency

  • Medical Genetics
  • Published:
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Abstract

Prentatal diagnosis of 21-hydroxylase deficiency (21-OHD) in two unrelated embryos and two fetuses was attempted with the Southern hybridization method using the 21-hydroxylase (21-OHase) complementary DNA as a probe. The two embryos whose genomic DNA was extracted from their chorionic vili both had four TaqI fragments (3.7 kb, 3.2 kb, 2.4 kb and 2.3 kb) identical to those of their respective parents and normal controls, while the DNA from each proband of these two families lacked with the 3.7 kb and the 2.3 kb fragments corresponding to the functional 21-OHase gene (21-OHase B gene). These findings indicated that none of the embryos examined were deletion homozygotes for the 21-OHase B gene. In the two fetuses, only amniotic fluid cells were available for prenatal diagnosis. The results of Southern hybridization analysis were uninformative since all family members, including the probands and fetuses, had all four TaqI fragments. Linkage studies between 21-OHD and human leukocyte antigen (HLA) haplotypes and those between the disease and restriction fragment length polymorphisms of the 4th complement gene revealed that the fetus of one family was normal. The other fetus could not be diagnosed because a recombination between the class I HLA and the 21-OHD loci had occurred in this family.

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Abbreviations

CAH:

congenital adrenal hyperplasia

cDNA:

complementary DNA

C4:

fourth compoment of complement

HLA:

human leucocyte antigen

MHC:

major histocompatibility complex

21-OHase:

21-hydroxylase

21-OHD:

21-hydroxylase deficiency

17-OHP:

17-hydroxyprogesterone

RFLP:

restriction fragment length polymorphism

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Authors and Affiliations

  1. Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto-machi 12-4, 852, Nagasaki, Japan

    T. Matsumoto, T. Kondoh, T. Kamei & N. Niikawa

  2. Department of Paediatrics, Nagasaki University School of Medicine, Sakamoto-machi 12-4, 852, Nagasaki, Japan

    T. Kondoh, M. Yoshimoto & Y. Tsuji

  3. Department of Gynecology and Obstetrics, Nagoya City University Medical School, Mizuhocho Kawasumi 1, 467, Nagoya, Japan

    K. Suzumori & R. Izumi

  4. Department of Child Development, Kumamoto University School of Medicine, Honjo 1-1-1, 860, Kumamoto, Japan

    N. Iwatani

Authors
  1. T. Matsumoto
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  2. T. Kondoh
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  3. T. Kamei
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  4. M. Yoshimoto
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  5. Y. Tsuji
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  6. K. Suzumori
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  7. R. Izumi
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  8. N. Iwatani
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  9. N. Niikawa
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Matsumoto, T., Kondoh, T., Kamei, T. et al. Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency. Eur J Pediatr 148, 228–232 (1988). https://doi.org/10.1007/BF00441409

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  • DOI: https://doi.org/10.1007/BF00441409

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