Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations
✍ Scribed by D. P. O'Malley; P. D. Storto
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 139 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
by the manufacturer. Both digested and undigested products were analysed by electrophoresis on 2 per cent agarose gel followed by staining with ethidium bromide. The normal and mutant alleles should be easily distinguished since BstNI converts the 88 bp fragment from a normal allele into 61 bp and 27 bp fragments. Figure shows the result of BstNI digestion of the PCR-amplified fragment from chorionic villus DNA, indicating that the neonate is a heterozygote, like the mother. The possibility that this heterozygous mutant DNA was from contaminating maternal DNA extracted from the cultured chorionic villi cells was ruled out by multiplex short-tandem-repeats analysis at sites HPRT (Xq26), FABP (4q28-q31), CD4 (12p12pter), CSF1PO (5q33.3-34), ThO1 (11p15.5), PLA2A1 (12q23-pter), F13A01 (6p24-25), CYAR04 (15q21.1) and LIPOL (8p22) . On the basis of the prenatal diagnosis, the mother elected to continue the pregnancy. At term an infant was born by spontaneous vaginal delivery. The infant was a male with normal liver and spleen sizes and no physical abnormalities. The presence of KI-resistant CA II activity (1•7 units/3•0 units of total CA activity per mg of haemoglobin) in erythrocyte lysates of the infant and the result of molecular analysis of DNA isolated from leukocytes both confirmed the heterozygous genotype of the infant.