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Abstract
Blood samples from a family who presented two cases of sudden infant death syndrome (SIDS) after two consecutive pregnancies were analysed for some inherited disorders of mitochondrial fatty acid β-oxidation. The polymorphism 625 G>A for the SCAD gene was identified in two persons who are cousins at first degree and marriage, and are the parents of two girls born apparently without problems who died after 24 hours without a reasonable explanation. The DNA analysis was performed by polymerase chain reaction (PCR) and singlestranded conformation polymorphism (SSCP) assay. When DNA fragments were subjected to electrophoresis in an 8% acrilamide/bisacrilamide (19:1), 7.5M urea gel, at room temperature for 3 hours, the single-base change at position 625 was clearly detected after silver stain. The results were confirmed by direct bidirectional cycle sequencing using DNA. After a third pregnancy a baby was born and after 6 months is still alive without problems. The acylcarnitines analysis for parents and the third baby was normal and molecular and biochemical analyses are being performed in samples from the new child and volunteer relatives of this family in order to obtain information about a possible relationship between the polymorphism and SIDS in this family. However, since about 10-14% of the general population are homozygous 625G>A or 511C>T or compound heterozygous for both it is necessary to have some other indication that they are disease-associated in this family and we need to study our populations to know the real percentage for the presence of this polymorphism as all the studies have been performed in Caucasoid populations.
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References
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