Bisceglia L, Calonge M J, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V
Servizio di Genetica Medica, IRCCS-Ospedale CSS, San Giovanni Rotondo (Fg), Italy.
Hum Genet. 1996 Oct;98(4):447-51. doi: 10.1007/s004390050237.
A cystinuria disease gene (rBAT) has recently been identified, but evidence strongly suggests that only Type-I cystinuria is due to mutations in this gene. Sixteen point mutations and a large deletion causing the disease have so far been described in the rBAT gene sequence. To identify new mutated alleles, genomic DNA was analyzed, after the determination of the entire genomic structure of the rBAT gene, by RNA-single strand conformation polymorphism analysis, an accurate and sensitive method able to detect nucleotide changes. Four new point mutations, a large deletion, and a common intragenic polymorphism were detected. These new mutations increase to 22 the number of mutated alleles so far characterized in rBAT. In addition, the frequency of 21 mutations was assessed in a sample of accurately defined Type-I cystinuria chromosomes. They account for about 58% of all Type-I chromosomes, mutation M467T being the most common (0.26).
最近已鉴定出一种胱氨酸尿症疾病基因（rBAT），但有力证据表明只有I型胱氨酸尿症是由该基因的突变所致。到目前为止，在rBAT基因序列中已描述了16个导致该疾病的点突变和一个大的缺失。为了鉴定新的突变等位基因，在确定rBAT基因的整个基因组结构后，通过RNA单链构象多态性分析（一种能够检测核苷酸变化的准确且灵敏的方法）对基因组DNA进行分析。检测到4个新的点突变、一个大的缺失和一个常见的基因内多态性。这些新突变使到目前为止在rBAT中鉴定出的突变等位基因数量增加到22个。此外，在一组精确定义的I型胱氨酸尿症染色体样本中评估了21种突变的频率。它们约占所有I型染色体的58%，突变M467T最为常见（0.26）。
