Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

摘要: Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but molecular deficiency causing SD still unknown. We have previously mapped gene to 6q14-q15 by means of genetic linkage analysis and restricted positive chromosomal area less than 100 kb with disequilibrium mapping. The two best allelic association markers now retrospectively used five prenatal analyses originally studied assays chorionic villus specimens. In four cases unaffected fetus was predicted a probability level more 94%, concordance biochemical data. One be affected over 96% probability, as shown CVS sample fetal tissues after termination pregnancy. Risk calculations incorporating were also predict carrier status members six families previous cases, few no known family history SD. DNA marker based thus provides reliable method risk estimations identification