中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
3期
279-282
,共4页
曹广娜%包新华%熊晖%吴晔%吴希如
曹廣娜%包新華%熊暉%吳曄%吳希如
조엄나%포신화%웅휘%오엽%오희여
X-连锁肾上腺脑白质营养不良%蛋氨酸代谢%遗传多态性%基因型%表型
X-連鎖腎上腺腦白質營養不良%蛋氨痠代謝%遺傳多態性%基因型%錶型
X-련쇄신상선뇌백질영양불량%단안산대사%유전다태성%기인형%표형
X-linked adrenoleukodystrophy%methionine metabolism%genetic polymorphism%genotype%phenotype
目的 探讨蛋氨酸代谢中3个相关基因的多态性与X-连锁肾上腺脑白质营养不良(X-linked adrenoleukodystrophy,X-ALD)患者临床表型、疾病严重程度的关系.方法 对120例X-ALD患者的临床资料进行分析,应用聚合酶链反应和产物直接测序法对蛋氨酸代谢途径中3个关键酶的基因多态性进行分析,包括转钴胺素2(transcobalamin 2,TC2)c.776C/G、5-甲基四氢叶酸-同型半胱氨酸-S-甲基转移酶(5-methyltetrahydrofolate-homocysteine-S-methyltransferase,MTR)c.2756A/G与胱硫醚β-合成酶(cystathionine beta-synthase,CBS)c.844ins68,分析其多态性与X-ALD患者表型、病情严重程度的关系.结果 TC2 c.776C/G的GG基因型频率在中枢神经系统受累者中(39%)高于正常对照组(27%),差异具有统计学意义(P=0.012),其它两个多态性未发现有统计学差异;与脑型患者疾病严重程度无相关性.结论 X-ALD患者的 TC2 c.776C/G的基因型可能与X-ALD的表型有关.未发现CBS c.844ins68及MTR c.2756A/G与X-ALD的表型有相关性.
目的 探討蛋氨痠代謝中3箇相關基因的多態性與X-連鎖腎上腺腦白質營養不良(X-linked adrenoleukodystrophy,X-ALD)患者臨床錶型、疾病嚴重程度的關繫.方法 對120例X-ALD患者的臨床資料進行分析,應用聚閤酶鏈反應和產物直接測序法對蛋氨痠代謝途徑中3箇關鍵酶的基因多態性進行分析,包括轉鈷胺素2(transcobalamin 2,TC2)c.776C/G、5-甲基四氫葉痠-同型半胱氨痠-S-甲基轉移酶(5-methyltetrahydrofolate-homocysteine-S-methyltransferase,MTR)c.2756A/G與胱硫醚β-閤成酶(cystathionine beta-synthase,CBS)c.844ins68,分析其多態性與X-ALD患者錶型、病情嚴重程度的關繫.結果 TC2 c.776C/G的GG基因型頻率在中樞神經繫統受纍者中(39%)高于正常對照組(27%),差異具有統計學意義(P=0.012),其它兩箇多態性未髮現有統計學差異;與腦型患者疾病嚴重程度無相關性.結論 X-ALD患者的 TC2 c.776C/G的基因型可能與X-ALD的錶型有關.未髮現CBS c.844ins68及MTR c.2756A/G與X-ALD的錶型有相關性.
목적 탐토단안산대사중3개상관기인적다태성여X-련쇄신상선뇌백질영양불량(X-linked adrenoleukodystrophy,X-ALD)환자림상표형、질병엄중정도적관계.방법 대120례X-ALD환자적림상자료진행분석,응용취합매련반응화산물직접측서법대단안산대사도경중3개관건매적기인다태성진행분석,포괄전고알소2(transcobalamin 2,TC2)c.776C/G、5-갑기사경협산-동형반광안산-S-갑기전이매(5-methyltetrahydrofolate-homocysteine-S-methyltransferase,MTR)c.2756A/G여광류미β-합성매(cystathionine beta-synthase,CBS)c.844ins68,분석기다태성여X-ALD환자표형、병정엄중정도적관계.결과 TC2 c.776C/G적GG기인형빈솔재중추신경계통수루자중(39%)고우정상대조조(27%),차이구유통계학의의(P=0.012),기타량개다태성미발현유통계학차이;여뇌형환자질병엄중정도무상관성.결론 X-ALD환자적 TC2 c.776C/G적기인형가능여X-ALD적표형유관.미발현CBS c.844ins68급MTR c.2756A/G여X-ALD적표형유상관성.
Objective To investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity. Methods The clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.2756A/G, and transcobalamin 2 (TC2) c.776C/G were analyzed by polymerase chain reaction and sequencing. The association between these polymorphisms and phenotype of X-ALD was studied. Results The frequency of GG genotype of the TC2 c.776C/G was higher in patients with central nervous system(CNS) demyelination than in controls (P=0.012). However, the other two polymorphisms did not show any significant associations with the phenotypes. Conclusion The GG genotype of TC2 c.776C/G may contribute to X-ALD phenotype.
