Bunge S, Knigge A, Steglich C, Kleijer W J, van Diggelen O P, Beck M, Gal A
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
J Med Genet. 1999 Jan;36(1):28-31.
Mucopolysaccharidosis type IIIB (MPS IIIB or Sanfilippo B disease) is an autosomal recessive storage disorder caused by deficiency of the lysosomal enzyme a-N-acetylglucosaminidase. Mutation screening was performed on a group of 22 patients using a combination of SSCP/heteroduplex analysis of amplified genomic fragments and direct sequencing of cDNA fragments. Twenty-one different mutations were identified, 18 of them novel. Together they account for 82% of the disease alleles. The mutation spectrum consists of two small insertions, two small deletions, three nonsense mutations, and 14 different missense mutations, one of them (M1L) affecting the initiation codon. The vast genetic heterogeneity seen in this disorder is reflected by the fact that only three of the mutations were identified in more than one patient.
ⅢB型粘多糖贮积症（MPS IIIB或Sanfilippo B病）是一种常染色体隐性遗传性贮积病，由溶酶体酶α-N-乙酰氨基葡萄糖苷酶缺乏所致。对一组22例患者进行了突变筛查，采用扩增基因组片段的单链构象多态性/异源双链分析和cDNA片段直接测序相结合的方法。共鉴定出21种不同的突变，其中18种为新突变。它们共同占疾病等位基因的82%。突变谱包括两个小插入、两个小缺失、三个无义突变和14个不同的错义突变，其中一个（M1L）影响起始密码子。该疾病中存在的巨大遗传异质性体现在以下事实：仅在不止一名患者中鉴定出三种突变。
