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Old meets new: identifying founder mutations in genetic disease.旧识新遇：识别遗传病中的奠基者突变
CMAJ. 2015 Feb 3;187(2):93-94. doi: 10.1503/cmaj.141509. Epub 2015 Jan 19.
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Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.先天性蔗糖酶-异麦芽糖酶缺乏症：一种常见的因纽特人始祖突变的鉴定
CMAJ. 2015 Feb 3;187(2):102-107. doi: 10.1503/cmaj.140657. Epub 2014 Dec 1.
3
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.通过全外显子组测序在因纽特人中鉴定出导致Ⅲa型糖原贮积病的奠基者AGL突变：病例系列
CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.
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Congenital sucrase-isomaltase deficiency.先天性蔗糖酶-异麦芽糖酶缺乏症
J Pediatr Gastroenterol Nutr. 1995 Jul;21(1):1-14. doi: 10.1097/00005176-199507000-00001.
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Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.先天性蔗糖酶-异麦芽糖酶缺乏症：一个家庭的评估总结
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S36. doi: 10.1097/01.mpg.0000421409.65257.fc.
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Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.SI基因中的四种突变是先天性蔗糖酶 - 异麦芽糖酶缺乏症（CSID）大多数临床症状的病因。
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.
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Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.先天性蔗糖酶-异麦芽糖酶缺乏症：肠道酶复合物遗传、转运及功能的异质性
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S13-20. doi: 10.1097/01.mpg.0000421402.57633.4b.
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Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.新型蔗糖酶-异麦芽糖酶突变的分子发病机制，这些突变存在于先天性蔗糖酶-异麦芽糖酶缺乏症患者中。
Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):817-826. doi: 10.1016/j.bbadis.2016.12.017. Epub 2017 Jan 3.
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Onset of sucrase-isomaltase deficiency in late adulthood.成年后期蔗糖酶-异麦芽糖酶缺乏症的发病。
Am J Gastroenterol. 1999 Aug;94(8):2298-9. doi: 10.1111/j.1572-0241.1999.01320.x.
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Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.土耳其先天性蔗糖-异麦芽糖酶缺乏症：单中心经验。
Scand J Gastroenterol. 2024 Jun;59(6):647-651. doi: 10.1080/00365521.2024.2324961. Epub 2024 Mar 8.
引用本文的文献
1
Genomic signatures of bottleneck and founder effects in dingoes.澳洲野犬瓶颈效应和奠基者效应的基因组特征
Ecol Evol. 2023 Sep 19;13(9):e10525. doi: 10.1002/ece3.10525. eCollection 2023 Sep.
2
Autosomal recessive mutation: A case report of a Sudanese child and his father.常染色体隐性突变：一名苏丹儿童及其父亲的病例报告。
Front Immunol. 2023 Mar 31;14:1135824. doi: 10.3389/fimmu.2023.1135824. eCollection 2023.
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Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.抗凝血酶c.1157T>C（p.Ile386Thr）的功能、生化、分子及临床特征，一种具有奠基者效应的波兰复发性变异体
Haematologica. 2023 Oct 1;108(10):2803-2807. doi: 10.3324/haematol.2022.282459.
4
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.全球与非综合征性听力障碍相关的致病变异的分布。
Genes (Basel). 2023 Feb 3;14(2):399. doi: 10.3390/genes14020399.
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The c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.c.1901C>T变异体：葡萄牙人群中的一个始祖变异体，对mRNA剪接有严重影响。
Cancers (Basel). 2021 Sep 4;13(17):4464. doi: 10.3390/cancers13174464.
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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.人类常染色体隐性疾病的患病率、遗传复杂性及特定人群的奠基者效应
NPJ Genom Med. 2021 Jun 2;6(1):41. doi: 10.1038/s41525-021-00203-x.
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Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context.新型生物信息学质量控制指标，用于临床环境下的下一代测序实验。
Nucleic Acids Res. 2019 Dec 2;47(21):e135. doi: 10.1093/nar/gkz775.
本文引用的文献
1
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.通过全外显子组测序在因纽特人中鉴定出导致Ⅲa型糖原贮积病的奠基者AGL突变：病例系列
CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.
2
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.先天性蔗糖酶-异麦芽糖酶缺乏症：一种常见的因纽特人始祖突变的鉴定
CMAJ. 2015 Feb 3;187(2):102-107. doi: 10.1503/cmaj.140657. Epub 2014 Dec 1.
3
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.加拿大 FORGE 联盟：一项为期两年的全国罕见病基因发现项目的结果。
Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003.
4
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.患有林奇综合征的纽芬兰大家族中三种MSH2基因突变的表型表达。
Fam Cancer. 2007;6(1):1-12. doi: 10.1007/s10689-006-0014-8.
5
Family history: the three-generation pedigree.家族史：三代系谱。
Am Fam Physician. 2005 Aug 1;72(3):441-8.
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Genomic medicine for underserved minority populations in family medicine.面向家庭医学中服务不足的少数族裔群体的基因组医学。
Am Fam Physician. 2005 Aug 1;72(3):386-7.
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Glycogen storage disease type III in Inuit children.因纽特儿童的III型糖原贮积病
CMAJ. 2005 Feb 1;172(3):355-8. doi: 10.1503/cmaj.1031589.
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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.克里脑白质病和CACH/VWM病在EIF2B5基因座上等位。
Ann Neurol. 2002 Oct;52(4):506-10. doi: 10.1002/ana.10339.
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HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.HNF-1α G319S是一种转录激活缺陷型突变体，与奥吉-克里族社区糖尿病发病动态的改变有关。
Proc Natl Acad Sci U S A. 2002 Apr 2;99(7):4614-9. doi: 10.1073/pnas.062059799. Epub 2002 Mar 19.
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Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.北美哈特派信徒（加拿大和美国）中的肝肉碱棕榈酰转移酶1（CPT1 A）缺乏症：奠基者效应的证据及基于DNA的新生儿筛查项目的初步研究结果
Mol Genet Metab. 2001 May;73(1):55-63. doi: 10.1006/mgme.2001.3149.
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