Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G ? C is found in over sixty percent of US propositi
✍ Scribed by Yu, Hongwei; Tint, G. Stephen; Salen, Gerald; Patel, Shailendra B.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 24 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis resulting from a deficiency of the enzyme 7-dehydrocholesterol ⌬7-reductase (7-DHCR). Mutations in 7-DHCR gene cause SLOS. Among these, a G → C transversion in the splice acceptor site of exon 9 (IVS8-1G → C) was suspected to be a frequent mutation, having been detected in about 18% of SLOS patients so far. This mutation results in the elimination of a AIwN1 restriction endonuclease site. We report a simple PCR-RFLP assay to detect the IVS8-1 G → C mutation. Using this method, we identified the IVS8-1G → C mutation in 21 of 33 SLOS propositi. This mutation was detected in one of 90 normal adult Caucasian Americans; but not among 121 Africans from Sierra Leone, 120 Caucasians from Finland, 95 Chinese or 103 Japanese adults. The results of this study provide further evidence that IVS8-1G → C transversion is a very common mutation in SLOS patients from the US and that the carrier rate in US caucasians may be high. The simple PCR-RFLP assay developed makes identification of this mutation convenient for diagnosis and for carrier detection.