✦ LIBER ✦

PRENATAL DIAGNOSIS OF ADRENOLEUKODYSTROPHY BY MEANS OF MUTATION ANALYSIS

✍ Scribed by ATSUSHI IMAMURA; YASUYUKI SUZUKI; XIANG-QIAN SONG; TOSHIYUKI FUKAO; NOBUYUKI SHIMOZAWA; TADAO ORII; NAOMI KONDO

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 341 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199603)16:3<259::aid-pd840>3.0.co;2-e

No coin nor oath required. For personal study only.

✦ Synopsis

Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codon (Q590STOP) and deletes the Pst I site. Two patients in this family were hemizygotes for this mutation. Pst I digestion of cDNA from chorionic villi revealed that the fetus was a heterozygote for this mutation, and sex determination using the polymerase chain reaction (PCR) indicated female. Lignocerate oxidation in cultured amniocytes was slightly decreased. These findings suggest that the fetus is a female carrier of ALD, and the resultant baby was female.

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