检测杜氏肌营养不良基因携带者方法的盲测结果。
Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene.
作者信息
Monckton G, Zatz M, Mion C S, Marusyk H
出版信息
Am J Hum Genet. 1984 Jul;36(4):926-30.
Abstract
We blind-tested a method that in earlier studies had shown increased leucine uptake in muscle fibers of biopsy specimens from three obligate carriers and seven of 11 putative carriers of the gene for Duchenne muscular dystrophy. Here, muscle samples obtained at biopsy in seven obligate carriers and nine control subjects from Brazil were examined in Canada without knowledge of the carrier status or serum enzyme concentrations. Leucine uptake was increased in four controls and within normal range in four carriers, a rate of false-positives and -negatives that underscores the need for blind-testing methods for detecting carriers of this disease.
摘要
我们对一种方法进行了盲测，该方法在早期研究中显示，从三名杜氏肌营养不良症基因的 obligate 携带者和 11 名推定携带者中的 7 名的活检标本的肌纤维中，亮氨酸摄取增加。在这里，从巴西的七名 obligate 携带者和九名对照受试者活检时获得的肌肉样本，在加拿大进行了检测，检测人员不知道携带者状态或血清酶浓度。四名对照受试者的亮氨酸摄取增加，四名携带者的亮氨酸摄取在正常范围内，这种假阳性和假阴性率突出了对检测这种疾病携带者的盲测方法的需求。
相似文献
1
Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene.检测杜氏肌营养不良基因携带者方法的盲测结果。
Am J Hum Genet. 1984 Jul;36(4):926-30.
2
A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report.一种检测杜氏肌营养不良症携带者的方法——初步报告。
Am J Hum Genet. 1981 Nov;33(6):978-86.
3
Effect of exercise on serum creatine kinase in carriers of Duchenne muscular dystrophy.运动对杜氏肌营养不良症携带者血清肌酸激酶的影响。
J Med Genet. 1982 Feb;19(1):4-7. doi: 10.1136/jmg.19.1.4.
4
Use of serum creatine kinase, pyruvate kinase, and genetic linkage for carrier detection in Duchenne and Becker dystrophy.利用血清肌酸激酶、丙酮酸激酶及基因连锁分析进行杜氏和贝克肌营养不良症携带者检测
Neurology. 1987 Jan;37(1):4-10. doi: 10.1212/wnl.37.1.4.
5
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker).患有X连锁肌营养不良症（杜兴氏和贝克氏）的女性亲属及患者的血清丙酮酸激酶（PK）和肌酸磷酸激酶（CPK）
J Neurol Sci. 1980 Jun;46(3):267-79. doi: 10.1016/0022-510x(80)90051-9.
6
Detection of carriers of X-linked gene for Duchenne muscular dystrophy by levels of creatine kinase and pyruvate kinase.
J Neurol Sci. 1983 Dec;62(1-3):171-80. doi: 10.1016/0022-510x(83)90197-1.
7
Evaluation of carrier detection rates for Duchenne and Becker muscular dystrophies using serum creatine-kinase (CK) and pyruvate-kinase (PK) through discriminant analysis.通过判别分析，利用血清肌酸激酶（CK）和丙酮酸激酶（PK）评估杜氏和贝克型肌营养不良症的携带者检出率。
Am J Med Genet. 1986 Oct;25(2):219-30. doi: 10.1002/ajmg.1320250204.
8
Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy.
Clin Genet. 1985 Mar;27(3):269-75. doi: 10.1111/j.1399-0004.1985.tb00219.x.
9
Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection.杜兴氏肌营养不良症的临床研究：V. 肌酸激酶和丙酮酸激酶在携带者检测中的应用
Muscle Nerve. 1985 Jan;8(1):60-7. doi: 10.1002/mus.880080111.
10
Serum creatine kinase and pyruvate kinase in Duchenne muscular dystrophy carrier detection.杜兴氏肌营养不良症携带者检测中的血清肌酸激酶和丙酮酸激酶
Muscle Nerve. 1979 Sep-Oct;2(5):329-39. doi: 10.1002/mus.880020503.
本文引用的文献
1
Sex chromatin and gene action in the mammalian X-chromosome.哺乳动物X染色体中的性染色质与基因作用
Am J Hum Genet. 1962 Jun;14(2):135-48.
2
MYOPATHIC CHANGES IN MUSCULAR DYSTROPHY CARRIERS.肌营养不良携带者的肌病性改变。
Proc R Soc Med. 1963 Sep;56(9):810-2. doi: 10.1177/003591576305600923.
3
The use of concomitant serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) for carrier detection in Duchenne's muscular dystrophy through discriminant analysis.通过判别分析，利用血清丙酮酸激酶（PK）和肌酸磷酸激酶（CPK）联合检测杜氏肌营养不良症的携带者。
J Neurol Sci. 1980 Sep;47(3):411-7. doi: 10.1016/0022-510x(80)90094-5.
4
Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker).患有X连锁肌营养不良症（杜兴氏和贝克氏）的女性亲属及患者的血清丙酮酸激酶（PK）和肌酸磷酸激酶（CPK）
J Neurol Sci. 1980 Jun;46(3):267-79. doi: 10.1016/0022-510x(80)90051-9.
5
A method for the detection of carriers of Duchenne muscular dystrophy--a preliminary report.一种检测杜氏肌营养不良症携带者的方法——初步报告。
Am J Hum Genet. 1981 Nov;33(6):978-86.
6
[Shorter autoradiographic exposition of electron microscopic preparations by scintillators].[用闪烁体对电子显微镜制剂进行更短时间的放射自显影曝光]
Naturwissenschaften. 1971 Feb;58(2):101-2. doi: 10.1007/BF00595037.
7
Carrier detection in Duchenne muscular dystrophy. A comparative study of electron microscopy, light microscopy and serum enzymes.
J Neurol Sci. 1970 Jul;11(1):65-79. doi: 10.1016/0022-510x(70)90041-9.
8
Normal mammalian muscle differentiation and gene control of isocitrate dehydrogenase synthesis.正常哺乳动物肌肉分化与异柠檬酸脱氢酶合成的基因调控。
Proc Natl Acad Sci U S A. 1967 Aug;58(2):592-8. doi: 10.1073/pnas.58.2.592.
9
Changes in muscle structure in dystrophic patients, carriers and normal siblings seen by electron microscopy; correlation with levels of serum creatinephosphokinase (CPK).
Ann N Y Acad Sci. 1966 Sep 9;138(1):246-92. doi: 10.1111/j.1749-6632.1966.tb41170.x.
10
Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique.定量肌电图：使用一种新的自动技术在杜兴型肌营养不良症中进行携带者检测。
J Neurol Neurosurg Psychiatry. 1972 Dec;35(6):841-4. doi: 10.1136/jnnp.35.6.841.
Zotero 插件