Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis Taschner PE; de Vos N; Catsman-Berrevoets CE; van Duinen SG; Lindhout D; Breuning MHAm J Med Genet 1995[Jun]; 57 (2): 338-43Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo-identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is of Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake-Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1-11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL.|*Chromosomes, Human, Pair 16[MESH]|Adult[MESH]|Age of Onset[MESH]|Child[MESH]|Child, Preschool[MESH]|Consanguinity[MESH]|Diagnosis, Differential[MESH]|Eccrine Glands/pathology/ultrastructure[MESH]|Female[MESH]|Genetic Markers[MESH]|Humans[MESH]|Infant[MESH]|Lysosomes/pathology/ultrastructure[MESH]|Male[MESH]|Microscopy, Electron[MESH]|Neuronal Ceroid-Lipofuscinoses/*diagnosis/*genetics/pathology[MESH]|Pedigree[MESH]|Polymerase Chain Reaction/*methods[MESH]|Turkey/ethnology[MESH] |