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Guthrie spots for DNA-based carrier testing in cystic fibrosis.

作者信息

Williams C, Weber L, Williamson R, Hjelm M

出版信息

Lancet. 1988 Sep 17;2(8612):693. doi: 10.1016/s0140-6736(88)90512-0.

DOI:10.1016/s0140-6736(88)90512-0
PMID:2901556
Abstract
摘要

相似文献

1
Guthrie spots for DNA-based carrier testing in cystic fibrosis.
Lancet. 1988 Sep 17;2(8612):693. doi: 10.1016/s0140-6736(88)90512-0.
2
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.在对4476名新生儿进行囊性纤维化初步筛查中,通过聚合酶链反应/寡核苷酸连接分析检测31种CFTR突变。
J Med Screen. 1999;6(2):67-9. doi: 10.1136/jms.6.2.67.
3
Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.扩展基因分析可提高新生儿囊性纤维化筛查的特异性。
Acta Paediatr. 2006 Nov;95(11):1424-8. doi: 10.1080/08035250600781846.
4
Active cascade testing for carriers of cystic fibrosis gene.对囊性纤维化基因携带者进行活性级联检测。
BMJ. 1994 Jun 4;308(6942):1462-7. doi: 10.1136/bmj.308.6942.1462.
5
Single tube multiplex PCR detection of 27 cystic fibrosis mutations and 4 polymorphisms using neonatal blood samples collected on Guthrie cards.使用在格思里卡片上采集的新生儿血样对27种囊性纤维化突变和4种多态性进行单管多重PCR检测。
Ann Clin Lab Sci. 2003 Summer;33(3):243-50.
6
Approaches to prenatal cystic fibrosis carrier screening.产前囊性纤维化携带者筛查方法。
J Med Genet. 1993 Jul;30(7):621. doi: 10.1136/jmg.30.7.621-a.
7
Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.通过新生儿筛查确诊的囊性纤维化:发病率、基因型及早期自然病史
Arch Dis Child. 1993 Apr;68(4):464-7. doi: 10.1136/adc.68.4.464.
8
Genetic analysis in cystic fibrosis using the amplification refractory mutation system (ARMS): the J3.11 MspI polymorphism.使用扩增阻滞突变系统(ARMS)对囊性纤维化进行基因分析:J3.11 MspI多态性
J Med Genet. 1991 Apr;28(4):248-51. doi: 10.1136/jmg.28.4.248.
9
Couple screening for cystic fibrosis.囊性纤维化的夫妇筛查。
Lancet. 1991 Nov 23;338(8778):1318-9. doi: 10.1016/0140-6736(91)92605-2.
10
Carrier screening for cystic fibrosis.囊性纤维化的携带者筛查。
Lancet. 2009 Sep 19;374(9694):978. doi: 10.1016/S0140-6736(09)61662-7.

引用本文的文献

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The Comparison of PCR Kits for the Detection of Erythrocytic Parasites on Filter Paper.用于检测滤纸上红细胞内寄生虫的PCR试剂盒比较
J Trop Med. 2022 Aug 13;2022:5715436. doi: 10.1155/2022/5715436. eCollection 2022.
2
Methylation status of CpG islands at sites -59 to +96 in exon 1 of the BRCA2 gene varies in mammary tissue among women with sporadic breast cancer.在散发性乳腺癌女性的乳腺组织中,BRCA2基因外显子1中-59至+96位点的CpG岛甲基化状态存在差异。
J Genet. 2008 Aug;87(2):155-8. doi: 10.1007/s12041-008-0023-5.
3
DNA fingerprinting of Mycobacterium tuberculosis complex culture isolates collected in Brazil and spotted onto filter paper.
对在巴西收集并点样于滤纸上的结核分枝杆菌复合群培养分离株进行DNA指纹分析。
J Clin Microbiol. 1998 Feb;36(2):573-6. doi: 10.1128/JCM.36.2.573-576.1998.
4
Amplification of Guthrie card DNA: effect of guanidine thiocyanate on binding of natural whole blood PCR inhibitors.格思里卡片DNA的扩增:硫氰酸胍对天然全血PCR抑制剂结合的影响
J Clin Lab Anal. 1997;11(2):87-93. doi: 10.1002/(sici)1098-2825(1997)11:2<87::aid-jcla4>3.0.co;2-h.
5
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).中链酰基辅酶A脱氢酶(MCAD)基因常见G985突变在苏格兰的发生频率及MCAD缺乏症在婴儿猝死综合征(SIDS)中的作用。
J Inherit Metab Dis. 1993;16(6):991-3. doi: 10.1007/BF00711516.
6
Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors.PCR抑制剂选择性洗脱后Guthrie卡DNA的增强直接扩增
Nucleic Acids Res. 1995 Sep 25;23(18):3788-9. doi: 10.1093/nar/23.18.3788.
7
Testing for cystic fibrosis using allelic association.利用等位基因关联检测囊性纤维化
J Med Genet. 1989 Jul;26(7):426-30. doi: 10.1136/jmg.26.7.426.
8
Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.使用用于新生儿筛查的吸水纸上的干血标本对镰状细胞病进行分子遗传学诊断。
Hum Genet. 1989 Mar;81(4):363-6. doi: 10.1007/BF00283692.
9
Polymerase chain reaction.聚合酶链反应
J Clin Immunol. 1989 Nov;9(6):437-47. doi: 10.1007/BF00918012.
10
Risks of fetal cystic fibrosis based on linkage disequilibrium data.
Hum Genet. 1989 Aug;83(1):52-4. doi: 10.1007/BF00274147.