[Familial febrile convulsions is supposed to link to human chromosome 19p13.3].
[Familial febrile convulsions is supposed to link to human chromosome 19p13.3].
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DOI：
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发表时间：
2001-01
影响因子：
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通讯作者：
Y. Qi;J. Lü;X. Wu
中科院分区：
文献类型：
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作者：
Y. Qi;J. Lü;X. Wu
OBJECTIVE To localize the familial febrile convulsion (FC) genes on human chromosomes. METHOD 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. RESULTS 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. CONCLUSION FC is linked with chromosome region 19p13.3, but not with chromosome 8q.
