Original Article

Journal of Investigative Dermatology (1994) 103, 104–106; doi:10.1111/1523-1747.ep12391833

Prenatal Diagnosis of Oculocutaneous Albinism by Analysis of the Fetal Tyrosinase Gene

Hiroshi Shimizu1, Hironori Niizeki2, Kaoru Suzumori1, Ryoji Aozaki3, Ryuji Kawaguchi3, Kazumasa Hikiji3 and Takeji Nishikawa1

  1. 1Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
  2. 2Department of Obstetrics and Gynecology, Nagoya City University Medical School, Nagoya, Japan
  3. 3Genetic Research Laboratory, SRL, Tokyo, Japan

Received 22 December 1993; Accepted 21 February 1994.

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Abstract

Tyrosinase-negative oculocutaneous albinism, the most severe subtype of a heterogeneous group of albinism, is an autosomal recessive trait caused by mutations in the tyrosinase gene. Prenatal diagnosis had been made previously only by evaluating fetal skin obtained by biopsy, an invasive procedure that cannot be performed earlier than 19 weeks of gestation. A pregnant mother of a 9-year-old Japanese boy with tyrosinase-negative oculocutaneous albinism wanted a prenatal diagnosis. Polymerase chain reaction amplification and allele-specific oligonucleotide hybridization revealed that the child is homozygous and the parents heterozygous for the pathologic mutation of the tyrosinase gene in exon 2 (single base insertion) but not for the one in exon 1. Prenatal diagnosis was made by analyzing the tyrosinase gene in fetal cells obtained by amniocentesis at 14 weeks of gestation, which demonstrated that the fetus was heterozygous for mutant tyrosinase gene. Pregnancy was therefore continued and a normal male infant was born.

This procedure, the analysis of the fetal genomic tyrosinase DNA, is a rapid and reliable approach to the prenatal diagnosis of oculocutaneous albinism at a relatively early stage of pregnancy and is safer and less invasive than previous methods using fetal skin biopsy.

Keywords:

gene analysis

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