Association Analysis Between EPAS1 Gene Polymorphism and Blood Physiological Indicators in Two Different Altitudes of Sheep in Xinjiang

doi:10.19586/j.2095-2341.2024.0137

Current Biotechnology ›› 2025, Vol. 15 ›› Issue (1): 119-126.DOI: 10.19586/j.2095-2341.2024.0137

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Association Analysis Between EPAS1 Gene Polymorphism and Blood Physiological Indicators in Two Different Altitudes of Sheep in Xinjiang

Jiong DONG(), Shifeng WANG(), Kaidiriye YUSUPU·, Jianli ZHAN, Abudureheman TUERXUN·

Key Laboratory of Biological Resources and Ecology of Pamirs Plateau Xinjiang Uygur Autonomous Region，the College of Life and Geographic Sciences，Kashi University，Xinjiang Kashi 844000，China

Received:2024-08-21 Accepted:2024-10-31 Online:2025-01-25 Published:2025-03-07
Contact: Shifeng WANG

新疆2种不同海拔绵羊EPAS1基因多态性与血液生理指标关联分析

董炅(), 王世锋(), 凯迪日耶·玉苏普, 詹建立, 阿布都热合曼·吐尔逊

喀什大学生命与地理科学学院，新疆帕米尔高原生物资源与生态重点实验室，新疆喀什 844000

通讯作者: 王世锋
作者简介:董炅E-mail： Dongwith@outlook.com；
基金资助:
新疆高校科研计划项目(XJEDU2021SI024)

Abstract

Abstract:

To explore the relationship between EPAS1 gene polymorphisms and hemoglobin indices in hypoxia adaptation among local Ovis aries populations in Xinjiang at varying altitudes， exons 9 and 16 of the EPAS1 gene were PCR-amplified and sequenced in 79 Tashkurgan sheep （4 200 m altitude） and 74 Duolang sheep （1 200 m altitude）. 7 SNP loci were identified， gene frequencies and differences in hemoglobin indices were analyzed. The results revealed that the hemoglobin content in Tashkurgan sheep was significantly higher than in Duolang sheep， suggesting that Tashkurgan sheep adapt to high-altitude hypoxia by increasing hemoglobin levels. Additionally， exons 9 and 16 of the EPAS1 gene were relatively conserved， with amino acid-level variation being significantly lower than nucleotide-level variation. Duolang sheep exhibited greater genetic diversity at the same polymorphic loci， indicating a negative correlation between altitude and polymorphic information content. These findings provide insights into the molecular mechanisms underlying Tashkurgan sheep's adaptation to high-altitude hypoxia and changes in blood physiological indices.

Key words: EPAS1 gene, hypoxia adaptation, polymorphism, blood physiology

摘要：

为探究不同海拔新疆地方绵羊EPAS1基因多态性与血红蛋白指标及低氧适应的关联，对79只塔什库尔干羊（海拔4 200 m）和74只多浪羊（海拔1 200 m）EPAS1基因的第9、第16外显子进行PCR扩增并测序。共检测到7个SNP位点，随后计算基因频率和基因型频率，并分析了血红蛋白指标的差异。结果表明，塔什库尔干羊的血红蛋白含量极显著高于多浪羊，这表明塔什库尔干羊通过增加血红蛋白含量来适应高海拔引起的低氧环境。同时，EPAS1基因的第9、第16外显子相对保守，氨基酸水平的变异远低于核苷酸水平。此外，多浪羊的遗传信息更为多样，显示出海拔与多态信息含量呈负相关趋势，为进一步理解塔什库尔干羊适应高海拔低氧环境的分子基础和血液生理指标变化提供了参考。

关键词: EPAS1基因, 低氧适应, 多态性, 血红蛋白

CLC Number:

Jiong DONG, Shifeng WANG, Kaidiriye YUSUPU·, Jianli ZHAN, Abudureheman TUERXUN·. Association Analysis Between EPAS1 Gene Polymorphism and Blood Physiological Indicators in Two Different Altitudes of Sheep in Xinjiang[J]. Current Biotechnology, 2025, 15(1): 119-126.

董炅, 王世锋, 凯迪日耶·玉苏普, 詹建立, 阿布都热合曼·吐尔逊. 新疆2种不同海拔绵羊EPAS1基因多态性与血液生理指标关联分析[J]. 生物技术进展, 2025, 15(1): 119-126.

Figures/Tables 10

References 23

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单倍型	SNP位点（突变频数）							合计
单倍型	g.83603（5）	g.83638（48）	g.83734（18）	g.83743（4）	g.91430（3）	g.91692（56）	g.91698（15）	合计
合计	-	-	-	-	-	-	-	153
NC_056056	G	T	G	G	C	T	G	44
Hap1	A	-	-	-	-	-	-	2
Hap2	-	C	-	-	-	-	-	31
Hap3	-	-	A	-	-	-	-	1
Hap4	-	-	-	A	-	-	-	1
Hap5	-	-	-	-	-	C	-	27
Hap6	-	-	-	-	-	-	A	10
Hap7	A	C	-	-	-	-	-	1
Hap8	A	-	G	-	-	-	-	1
Hap9	A	-	-	-	-	C	-	1
Hap10	-	C	G	-	-	-	-	1
Hap11	-	C	-	A	-	-	-	1
Hap12	-	C	-	-	-	C	-	9
Hap13	-	C	-	-	-	-	A	3
Hap14	-	-	G	-	-	C	-	13
Hap15	-	-	-	A	-	-	A	1
Hap16	-	-	-	-	T	C	-	3
Hap17	-	-	-	-	-	C	A	1
Hap18	-	-	A	A	-	C	-	1
Hap19	-	C	A	-	-	C	-	1

单倍型	SNP位点（突变频数）							合计
单倍型	g.83603（5）	g.83638（48）	g.83734（18）	g.83743（4）	g.91430（3）	g.91692（56）	g.91698（15）	合计
合计	-	-	-	-	-	-	-	153
NC_056056	G	T	G	G	C	T	G	44
Hap1	A	-	-	-	-	-	-	2
Hap2	-	C	-	-	-	-	-	31
Hap3	-	-	A	-	-	-	-	1
Hap4	-	-	-	A	-	-	-	1
Hap5	-	-	-	-	-	C	-	27
Hap6	-	-	-	-	-	-	A	10
Hap7	A	C	-	-	-	-	-	1
Hap8	A	-	G	-	-	-	-	1
Hap9	A	-	-	-	-	C	-	1
Hap10	-	C	G	-	-	-	-	1
Hap11	-	C	-	A	-	-	-	1
Hap12	-	C	-	-	-	C	-	9
Hap13	-	C	-	-	-	-	A	3
Hap14	-	-	G	-	-	C	-	13
Hap15	-	-	-	A	-	-	A	1
Hap16	-	-	-	-	T	C	-	3
Hap17	-	-	-	-	-	C	A	1
Hap18	-	-	A	A	-	C	-	1
Hap19	-	C	A	-	-	C	-	1

SNP位点	基因型	基因型频率		预期基因型频率		等位基因	基因频率
SNP位点	基因型	TK（n）	DL（n）	TK	DL	等位基因	TK	DL
g.83603 G>A 错义突变	GG	1.000 0^A(79)	0.932 4^B(69)	1.000 0	0.920 6	G	1.000 0	0.952 5
	GA	0.000 0^B(0)	0.054 1^A(4)	0.000 0	0.077 8	A	0.000 0	0.040 5
	AA	0.000 0^b(0)	0.013 5^a(1)	0.000 0	0.001 6
g.83638 T>C 同义突变	TT	0.721 5^a(57)	0.648 4^b(48)	0.719 3	0.635 7	T	0.848 1	0.797 3
	TC	0.253 2(20)	0.297 3(22)	0.257 7	0.323 2	C	0.151 9	0.202 7
	CC	0.025 3(2)	0.054 1(4)	0.023 1	0.041 1
g.83734 G>A 同义突变	GG	0.873 4(69)	0.891 9(66)	0.807 7	0.832 0	G	0.898 7	0.912 2
	GA	0.050 6(4)	0.040 5(3)	0.182 0	0.160 2	A	0.101 3	0.087 8
	AA	0.075 9(6)	0.067 6(5)	0.010 3	0.007 7
g.83743 G>A 同义突变	GG	0.949 4^B(75)	1.000 0^A(74)	0.937 7	1.000 0	G	0.965 4	1.000 0
	GA	0.038 0^A(3)	0.000 0^B(0)	0.061 3	0.000 0	A	0.031 6	0.000 0
	AA	0.012 7^a(1)	0.000 0^b(0)	0.001 0	0.000 0
g.91430 C>T 同义突变	TT	0.000 0(0)	0.000 0(0)	0.000 0	0.000 2	T	0.006 3	0.013 5
	TC	0.012 7(1)	0.027 0(2)	0.012 6	0.026 7	C	0.993 7	0.986 5
	CC	0.987 3(78)	0.973 0(72)	0.987 4	0.973 2
g.91692 T>C 同义突变	TT	0.632 9(50)	0.635 1(47)	0.511 5	0.484 3	T	0.715 2	0.695 9
	TC	0.164 6(13)	0.121 6(9)	0.407 4	0.423 2	C	0.284 8	0.304 1
	CC	0.202 5(16)	0.243 2(18)	0.081 1	0.092 4
g.91698 G>A 同义突变	GG	0.911 4(72)	0.891 9(66)	0.913 4	0.869 4	G	0.955 7	0.932 4
	GA	0.088 6(7)	0.081 1(6)	0.084 7	0.126 0	A	0.044 3	0.067 6
	AA	0.000 0^B(0)	0.027 0^A(2)	0.002 0	0.004 6

SNP位点	基因型	基因型频率		预期基因型频率		等位基因	基因频率
SNP位点	基因型	TK（n）	DL（n）	TK	DL	等位基因	TK	DL
g.83603 G>A 错义突变	GG	1.000 0^A(79)	0.932 4^B(69)	1.000 0	0.920 6	G	1.000 0	0.952 5
	GA	0.000 0^B(0)	0.054 1^A(4)	0.000 0	0.077 8	A	0.000 0	0.040 5
	AA	0.000 0^b(0)	0.013 5^a(1)	0.000 0	0.001 6
g.83638 T>C 同义突变	TT	0.721 5^a(57)	0.648 4^b(48)	0.719 3	0.635 7	T	0.848 1	0.797 3
	TC	0.253 2(20)	0.297 3(22)	0.257 7	0.323 2	C	0.151 9	0.202 7
	CC	0.025 3(2)	0.054 1(4)	0.023 1	0.041 1
g.83734 G>A 同义突变	GG	0.873 4(69)	0.891 9(66)	0.807 7	0.832 0	G	0.898 7	0.912 2
	GA	0.050 6(4)	0.040 5(3)	0.182 0	0.160 2	A	0.101 3	0.087 8
	AA	0.075 9(6)	0.067 6(5)	0.010 3	0.007 7
g.83743 G>A 同义突变	GG	0.949 4^B(75)	1.000 0^A(74)	0.937 7	1.000 0	G	0.965 4	1.000 0
	GA	0.038 0^A(3)	0.000 0^B(0)	0.061 3	0.000 0	A	0.031 6	0.000 0
	AA	0.012 7^a(1)	0.000 0^b(0)	0.001 0	0.000 0
g.91430 C>T 同义突变	TT	0.000 0(0)	0.000 0(0)	0.000 0	0.000 2	T	0.006 3	0.013 5
	TC	0.012 7(1)	0.027 0(2)	0.012 6	0.026 7	C	0.993 7	0.986 5
	CC	0.987 3(78)	0.973 0(72)	0.987 4	0.973 2
g.91692 T>C 同义突变	TT	0.632 9(50)	0.635 1(47)	0.511 5	0.484 3	T	0.715 2	0.695 9
	TC	0.164 6(13)	0.121 6(9)	0.407 4	0.423 2	C	0.284 8	0.304 1
	CC	0.202 5(16)	0.243 2(18)	0.081 1	0.092 4
g.91698 G>A 同义突变	GG	0.911 4(72)	0.891 9(66)	0.913 4	0.869 4	G	0.955 7	0.932 4
	GA	0.088 6(7)	0.081 1(6)	0.084 7	0.126 0	A	0.044 3	0.067 6
	AA	0.000 0^B(0)	0.027 0^A(2)	0.002 0	0.004 6

SNP位点	品种	PIC	He	Ho	Ne	HWE
g.83603	TK	0.000	0.000	1.000	1.000
g.83603	DL	0.075	0.078	0.922	1.084	0.009
g.83638	TK	0.224	0.258	0.742	1.347	0.877
g.83638	DL	0.271	0.323	0.677	1.478	0.490
g.83734	TK	0.165	0.182	0.818	1.223	0.000
g.83734	DL	0.147	0.160	0.840	1.191	0.000
g.83743	TK	0.059	0.061	0.939	1.065	0.001
g.83743	DL	0.000	0.000	1.000	1.000
g.91430	TK	0.012	0.013	0.987	1.013	0.955
g.91430	DL	0.026	0.027	0.973	1.027	0.906
g.91692	TK	0.324	0.407	0.593	1.687	0.000
g.91692	DL	0.334	0.423	0.577	1.734	0.000
g.91698	TK	0.081	0.085	0.915	1.093	0.680
g.91698	DL	0.118	0.126	0.874	1.144	0.002

Association Analysis Between EPAS1 Gene Polymorphism and Blood Physiological Indicators in Two Different Altitudes of Sheep in Xinjiang

新疆2种不同海拔绵羊EPAS1基因多态性与血液生理指标关联分析

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References 23

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种类	突变前	突变后
缬氨酸占比	4.1%	4.0%
甲硫氨酸占比	3.4%	3.5%
化学式	C₄₂₈₃H₆₆₈₈N₁₁₆₂O₁₃₄₁S₅₂	C₄₂₈₃H₆₆₈₈N₁₁₆₂O₁₃₄₁S₅₃
原子总数	13 526	13 527
消光系数（胱氨酸）¹	0.719	0.718
消光系数（半胱氨酸）²	0.705	0.704
脂溶指数	67.61	67.28
亲水平均值	-0.479	-0.482

项目	GG	GA	AA
白细胞数/（10⁹·L^-1）	7.83±2.04	8.42±4.36	5.56
红细胞数/（10⁹·L^-1）	8.19±1.02	8.31±0.86	6.04
血小板数/（10⁹·L^-1）	304.38±155.43	215.00±118.79	331.00
淋巴细胞数/（10⁹·L^-1）	2.29±1.25	2.54±0.23	0.83
单核细胞数/（10⁹·L^-1）	0.33±0.15	0.48±0.02	0.37
中性粒细胞数/（10⁹·L^-1）	5.10±1.84	5.28±4.09	4.25
血红蛋白含量/（g·L^-1）	101.38±16.46	101.5±13.44	74.00
平均红细胞血红蛋白浓度/（g·L^-1）	355.50±25.22	370.50±12.02	316.00
红细胞压积/%	28.67±4.47	27.4±2.69	23.50
嗜酸性粒细胞百分比/%	1.48±1.09	1.95±1.06	2.00
红细胞分布宽度变异系数/%	16.78±1.08	16.95±2.05	16.10
血小板分布宽度/fL	8.43±1.65	9.15±0.78	4.80
平均血小板体积/fL	5.17±0.61	5.45±0.49	4.80
平均红细胞体积/fL	34.88±2.16	33.00±0.14	38.90
红细胞分布宽度标准差/fL	21.45±2.29	20.15±1.77	23.70

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