Biochemical diagnosis of Hunter syndrome on Epstein-Barr virus-transformed lymphoblastoid cell lines.
Long-term lymphoblastoid cell lines have been established from a patient with Hunter syndrome, from his mother, an obligate heterozygote, and from several control individuals. Biochemical analyses show that lymphoblastoid cells represent a suitable biological material for the diagnosis of hemizygous, affected males and for heterozygous females: clonal analysis demonstrates the mosaicism predicted by the Lyon hypothesis.
Morabito
E
E
Istituto di Biochimica Cellulare e Molecolare, 2nd Medical School, University of Naples, Italy.
Giambarrasi
I
I
Rocchi
M
M
Di Natale
P
P
D002461:Cell Line, Transformed / Q000166:cytology / Q000201:enzymology; D002472:Cell Transformation, Viral; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D002999:Clone Cells / Q000145:classification; D005260:Female; D004854:Herpesvirus 4, Human; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000378:metabolism; D008213:Lymphocyte Activation; D008297:Male; D009030:Mosaicism; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*
D007066:Iduronate Sulfatase; D002553:Cerebroside-Sulfatase