Haiyoung Jung, Chang-Seok Ki, Won-Jung Koh, Kang-Mo Ahn, Sang-Il Lee, Jeong-Ho Kim, Jae Sung Ko, Jeong Kee Seo, Seung-Ick Cha, Eun-Sil Lee, Jong-Won Kim
BACKGROUND: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians. METHODS: In the present study, we describe the cases of 2 Korean CF patients, present sequencing results identifying mutations in their CFTR gene, and summarize the results of CFTR mutational spectrum from previously reported Korean CF patients...
July 2011: Korean Journal of Laboratory Medicine