Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromosome 16p11.2. Linkage disequilibrium has been observed between CLN3 and polymorphic microsatellite markers D16S288, D16S299, and D16S298, making carrier detection and prenatal diagnosis by haplotype analysis possible. For the purpose of carrier detection, haplotypes from Dutch Batten patients and their families were constructed. Most patients share the same D16S298 allele, suggesting the presence of a founder effect in the Dutch population. In a large inbred Dutch family, in which Batten disease occurs with high frequency, haplotype analysis has been carried out with high accuracy for carrier detection.
Taschner
P E
PE
Department of Genetics, Leiden University, The Netherlands.
de Vos
N
N
Post
J G
JG
Meijers-Heijboer
E J
EJ
Hofman
I
I
Loonen
M C
MC
Pinckers
A J
AJ
Bleeker-Wagemakers
E M
EM
Gardiner
R M
RM
Breuning
M H
MH
D000483:Alleles; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D007178:Inbreeding; D015810:Linkage Disequilibrium; D008297:Male; D009426:Netherlands; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011336:Probability; D015203:Reproducibility of Results; D012307:Risk Factors
D005819:Genetic Markers