Qi Y, Lü J, Wu X
Department of Pediatrics, First Hospital of Peking University, Peking 100034, China.
Zhonghua Yi Xue Za Zhi. 2001 Jan 10;81(1):27-9.
To localize the familial febrile convulsion (FC) genes on human chromosomes.
For 63 FC pedigrees, tetranucleotide repeat markers D19S253 D19S395 and D19S591 on the short arm of chromosome 19, as well as dinucleotide repeat markers D8S84 and D8S85 on the long arm of chromosome 8 were genotyped. Transmission disequilibrium test (TDT) and Lod score calculation were carried out. The data were processed by PPAP software package.
All the alleles in every locus of FC probands and normal controls were in Hardy-Weinburg balance. Transmission disequilibrium was found on D8S84, D19S395 and D19S591 in FC families. chi(2) values were 4.0, 5.124 and 7.364 separately. Each P value was < 0.05, and significantly meaningful. The two-point Lod scores between D8S84 and FC, D8S85 and FC, D19S253 and FC, D19S395 and FC, D19S591 and FC are 0.00002, 0.000017, 0.58, 1.53 and 1.42 respectively. The multi-point Lod score among markers on chromosome 8q and FC was 0.88, while Lod score among markers on chromosome 19p and FC reached 2.78. The results by both the non-parameter (TDT) and parameter (Lod score) methods were consistant on a whole.
FC is linked with chromosome region 19p13.3, but not with chromosome 8q.
将家族性热性惊厥（FC）基因定位到人类染色体上。
对63个FC家系，对19号染色体短臂上的四核苷酸重复标记D19S253、D19S395和D19S591，以及8号染色体长臂上的二核苷酸重复标记D8S84和D8S85进行基因分型。进行传递不平衡检验（TDT）和Lod分值计算。数据采用PPAP软件包处理。
FC先证者和正常对照每个位点的所有等位基因均处于Hardy-Weinburg平衡。在FC家系的D8S84、D19S395和D19S591上发现传递不平衡。χ²值分别为4.0、5.124和7.364。每个P值均<0.05，具有显著意义。D8S84与FC、D8S85与FC、D19S253与FC、D19S395与FC、D19S591与FC之间的两点Lod分值分别为0.00002、0.000017、0.58、1.53和1.42。8号染色体q臂上标记与FC之间的多点Lod分值为0.88，而19号染色体p臂上标记与FC之间的Lod分值达到2.78。非参数（TDT）和参数（Lod分值）方法的结果总体上是一致的。
FC与19p13.3染色体区域连锁，但与8号染色体q臂无关。
Zotero 插件