Gaedigk Andrea, Gaedigk Roger, Abdel-Rahman Susan M
Division of Pediatric Clinical Pharmacology and Medical Toxicology, Children's Mercy Hospital, Kansas City, Missouri 64108, USA.
J Clin Microbiol. 2003 Dec;41(12):5478-87. doi: 10.1128/JCM.41.12.5478-5487.2003.
Trichophyton tonsurans is the major pediatric pathogen in tinea capitis, causing disparate disease presentations. Little is known about genetic variation, which may ultimately be linked to divergent disease status. This investigation was aimed at identifying genetic variants of T. tonsurans by methods that can facilitate strain discrimination in population-based studies. Ninety-two isolates were acquired from six U.S. microbiology laboratories, and genomic DNA was isolated from mature colonies. The nontranscribed spacer (NTS) was amplified by PCR, and products from isolates with various amplicon sizes were fully sequenced. Nested amplification, targeting a variable internal repeat (VIR) region, allowed assignment of variant type by fragment size. Subvariant type was assigned by a combination of PCR-restriction fragment length polymorphism-based assays. Five variants differing in size (348 to 700 bp) and sequence were identified within the VIR region comprised of several large repeats (104, 140, and 194 bp) arranged in tandem. Seven single-nucleotide polymorphisms (SNPs) were detected across the NTS, with five occurring in the constant regions flanking the VIR region and two occurring in the VIR region. Additionally, a 10-bp insertion and a 14-bp deletion were identified upstream of the VIR region. The combination of SNPs revealed seven haplotype patterns which were stable upon serial passage over 1 year. No sequence variations were identified within the internal transcribed spacer regions. Unique NTS sequences were utilized to develop a duplex PCR assay that discriminated T. tonsurans from other dermatophytes. Of the 92 isolates evaluated, this genotyping scheme distinguished 12 distinct strains, providing evidence of genetic heterogeneity in T. tonsurans.
断发毛癣菌是头癣的主要儿科病原体,可导致不同的疾病表现。关于基因变异知之甚少,而基因变异可能最终与不同的疾病状态相关。本研究旨在通过有助于在基于人群的研究中区分菌株的方法来鉴定断发毛癣菌的基因变异。从美国六个微生物实验室获取了92株分离株,并从成熟菌落中分离出基因组DNA。通过PCR扩增非转录间隔区(NTS),并对具有不同扩增子大小的分离株的产物进行全序列测定。针对可变内部重复序列(VIR)区域的巢式扩增允许通过片段大小来确定变异类型。通过基于PCR-限制性片段长度多态性的检测方法组合来确定亚型。在由几个串联排列的大重复序列(104、140和194 bp)组成的VIR区域内鉴定出了5种大小(348至700 bp)和序列不同的变异。在整个NTS中检测到7个单核苷酸多态性(SNP),其中5个发生在VIR区域侧翼的恒定区域,2个发生在VIR区域。此外,在VIR区域上游鉴定出一个10 bp的插入和一个14 bp的缺失。SNP的组合揭示了7种单倍型模式,这些模式在连续传代1年后保持稳定。在内转录间隔区未鉴定到序列变异。利用独特的NTS序列开发了一种双重PCR检测方法,可将断发毛癣菌与其他皮肤癣菌区分开来。在评估的92株分离株中,这种基因分型方案区分出了12个不同的菌株,为断发毛癣菌的遗传异质性提供了证据。