中文摘要：

目的：探讨δ-氨基γ-酮戊酸合成酶2（ALAS2）基因复合重复多态性在中国北方汉族男性中的分布特征及其与Hi HiLo训练敏感性的关联性。方法：①选取244名中国北方汉族男性健康受试者,观察A-LAS2基因第7内含子中复合二核苷酸重复多态的频率分布;②从上述受试者中选取72名再进行4周高住高练低训（Hi HiLo）,方案为每日在低氧环境（相当于海拔3000米）中休息10h,每周进行3次低氧下（相当于海拔2500米）75%V.O2max强度蹬功率自行车训练,其余时间在常氧下训练;测定受试者Hi HiLo前后V.O2max等相关生理指标。使用GeneScan和测序方法分析该基因多态性的分布特征,并进行该多态与Hi HiLo训练敏感性的关联性分析。结果：（1）在中国北方汉族男性中观察到13种基因型,其中分布频率较高的是164bp、166bp、168 bp、170bp和172 bp;（2）选取的72名受试者进行Hi HiLo训练,按照分割点法划分基因型及分组分析,发现按166 bp长度划分时,≤166 bp基因型携带者训练后△V.O2max、△rV.O2max均非常显著性高于〉166 bp基因型携带者（P〈0.01）。结论：ALAS2基因复合重复多态与男性Hi HiLo训练敏感性有关联,可作为预测Hi HiLo训练敏感性的分子遗传学标记。

英文摘要：

The objective of this paper is to investigate the distribution of the compound dinucleotide repeat polymorphism in intron 7 of ALAS2 Gene and its association with HiHiLo response in men of Han nationality in Northern China.244 healthy young men of Han Nationality in Northern China were recruited to be identified on the frequency distribution of the ALAS2 Gene polymorphism in intron 7.72 subjects of these people were selected to undergo 4 week HiHiLo program（hypoxic exposure 10 hours everyday with14.5%～14.8% O2,3 times hypoxic training every week with 15.4% O2,and normal training at sea level）.The V.O2max were measured before and after protocol.GeneScan and gene sequencing was used to analyse the distribution of the ALAS2 polymorphism.The association of the polymorphism with HiHiLo response was analysed.Result： ①13 alleles and genetypes were observed in all the subjects.The 164bp、166bp、168 bp、170bp and172 bp were common alleles.②The successive cut-point analysis showed that △V.O2max、△rV.O2max in ≤166 bp genotype group were significantly higher than in 166 bp genotype group（P0.01）.Conclusion：The compound dinucleotide repeat polymorphism in intron 7 of ALAS2 Gene has association with HiHiLo response and could be the genetic marker in predicting HiHiLo response.