构建17号染色体17q21区域额颞叶痴呆伴帕金森综合征17型（FTDP-17）候选区域的详细物理图谱和转录图谱。

Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21.

作者信息

Froelich S, Houlden H, Rizzu P, Chakraverty S, Baker M, Kwon J, Nowotny P, Isaacs A, Nowotny V, Wauters E, van Baren M J, Oostra B A, Hardy J, Lannfelt L, Goate A, Hutton M, Lendon C L, Heutink P

机构信息

Section of Geriatric Medicine, Karolinska Institutet, Huddinge, S-14186, Sweden.

出版信息

Genomics. 1999 Sep 1;60(2):129-36. doi: 10.1006/geno.1999.5892.

DOI:10.1006/geno.1999.5892

PMID:10486204

Abstract

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant condition clinically characterized by behavioral, cognitive, and motor disturbances. Until now, at least 13 different FTDP-17 families that show linkage to chromosome 17q21 have been described. To characterize the FTDP-17 candidate region, flanked by the markers D17S1789 and D17S1804, we constructed a physical map in P1 and PAC clones. A detailed transcript map was generated by positioning known genes and EST clusters to the physical map. In total, we investigated 150 STSs mapped to this region. In addition, novel transcripts were isolated by exon-trapping. We were able to localize 19 known genes and a number of ESTs to this chromosomal region. Furthermore, seven novel genes were identified for which we isolated the full-length sequence.

摘要

与17号染色体相关的额颞叶痴呆和帕金森综合征（FTDP - 17）是一种常染色体显性疾病，临床表现为行为、认知和运动障碍。到目前为止，至少已经描述了13个与17号染色体q21区域连锁的不同FTDP - 17家族。为了对位于标记D17S1789和D17S1804之间的FTDP - 17候选区域进行特征分析，我们构建了P1和PAC克隆的物理图谱。通过将已知基因和EST簇定位到物理图谱上生成了详细的转录图谱。我们总共研究了定位到该区域的150个STS。此外，通过外显子捕获分离出了新的转录本。我们能够将19个已知基因和一些EST定位到这个染色体区域。此外，还鉴定出了7个新基因，并分离出了它们的全长序列。