Molecular genetic testing for neuronal ceroid lipofuscinoses.
Eight different NCL forms have been recognized to be encoded by genes CLN1-8. CLN1,2,3,5,and 8 have been cloned, and at least 85 mutations have been detected. Molecular technology can now be applied to genetic testing for NCLs; testing is now available in clinic diagnostic and research laboratories for CLN genes that have been cloned. Molecular genetic testing makes it possible not only to confirm clinical and pathological diagnoses but also to offer pre-symptom diagnosis and carrier screening for NCL families. In addition, DNA-based mutation analysis may predict prenatal outcome more accurately for pregnant women in NCL families.
Zhong
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Molecular Neurogenetic Diagnostic Laboratory, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA. omrddzhong@aol.com
D003001:Cloning, Molecular; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
C105199:CLN3 protein, human; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011506:Proteins