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从杜兴氏肌营养不良症家族中X染色体DNA单倍型的分离情况估计突变率的男女比例。

Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

作者信息

Müller C R, Grimm T

出版信息

Hum Genet. 1986 Oct;74(2):181-3. doi: 10.1007/BF00282088.

DOI:10.1007/BF00282088
PMID:3464560
Abstract

A novel procedure is presented to estimate the ratio of male to female mutation rates for Duchenne muscular dystrophy (DMD). X-specific restriction fragment length polymorphisms are used to establish DNA haplotypes in three-generation DMD families. From the proportion of DMD patients who have inherited their maternal grandfather's X chromosome, the ratio of mutation rates can be calculated. In contrast to classical methods, the proposed procedure is not restricted to sporadic or familiar cases nor is any information on the carrier status of female relatives required.

摘要

本文提出了一种新方法来估计杜氏肌营养不良症（DMD）男性与女性突变率的比例。利用X特异性限制性片段长度多态性在三代DMD家族中建立DNA单倍型。根据继承了外祖父X染色体的DMD患者比例，可以计算出突变率的比例。与传统方法不同，该方法不仅适用于散发病例或家族病例，也不需要女性亲属携带者状态的任何信息。

相似文献

1
Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.从杜兴氏肌营养不良症家族中X染色体DNA单倍型的分离情况估计突变率的男女比例。
Hum Genet. 1986 Oct;74(2):181-3. doi: 10.1007/BF00282088.
2
Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.杜兴氏和贝克氏肌营养不良症基因座与九个X染色体DNA标记之间的遗传连锁研究。
Hum Genet. 1987 Jan;75(1):32-40. doi: 10.1007/BF00273835.
3
Origin of new mutations in Duchenne muscular dystrophy.
Hum Genet. 1986 Dec;74(4):456-60. doi: 10.1007/BF00280507.
4
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.杜氏肌营养不良症：发病机制及基因预防
Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.
5
[Use of dystrophin c-DNA for the direct diagnosis of Duchenne muscular dystrophy in female carriers].[利用抗肌萎缩蛋白互补DNA对杜氏肌营养不良女性携带者进行直接诊断]
Neurologia. 1989 Oct;4(8):268-76.
6
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy.与杜氏肌营养不良症基因相关的DNA标记物的临床应用。
Arch Dis Child. 1984 Mar;59(3):208-16. doi: 10.1136/adc.59.3.208.
7
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.利用经典分离分析和限制性片段长度多态性检测杜氏肌营养不良症男性和女性突变率差异的效能研究
Am J Hum Genet. 1986 Jun;38(6):827-40.
8
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.杜兴氏和贝克氏肌营养不良症家族中位于Xp21.2 - Xp21.3的一个标记的分离分析。
Hum Genet. 1985;71(2):103-7. doi: 10.1007/BF00283362.
9
Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.X染色体短臂上杜兴氏和贝克氏肌营养不良症基因座附近DNA多态性的连锁分析。
J Med Genet. 1985 Jun;22(3):179-81. doi: 10.1136/jmg.22.3.179.
10
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.从X染色体特异性文库中分离检测限制性片段长度多态性的探针：对杜氏肌营养不良症诊断的潜在用途。
Hum Genet. 1985;70(2):148-56. doi: 10.1007/BF00273073.

引用本文的文献

1
Determinants of the incidence of Duchenne muscular dystrophy.杜氏肌营养不良症发病率的决定因素。
Ann Transl Med. 2015 Nov;3(19):287. doi: 10.3978/j.issn.2305-5839.2015.10.45.
2
Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.X连锁低汗性外胚层发育不良家系中新生突变的检测及其起源分析。
J Med Genet. 1994 Apr;31(4):287-92. doi: 10.1136/jmg.31.4.287.
3
On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis.

本文引用的文献

1
Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation.
Clin Genet. 1980 Nov;18(5):329-41. doi: 10.1111/j.1399-0004.1980.tb02293.x.
2
No sex difference in mutations rates of Duchenne muscular dystrophy.杜氏肌营养不良症的突变率不存在性别差异。
J Med Genet. 1980 Apr;17(2):106-11. doi: 10.1136/jmg.17.2.106.
3
Frequency of new mutants among boys with Duchenne muscular dystrophy.
Am J Med Genet. 1980;7(1):27-34. doi: 10.1002/ajmg.1320070107.
4
关于杜氏肌营养不良症中缺失和点突变的起源：大多数缺失发生在卵子发生过程中，而大多数点突变是由精子发生过程中的事件导致的。
J Med Genet. 1994 Mar;31(3):183-6. doi: 10.1136/jmg.31.3.183.
4
Sporadic cases in Duchenne muscular dystrophy. A reappraisal through segregation analysis on 988 sibships.杜氏肌营养不良症的散发病例。通过对988个同胞对进行分离分析的重新评估。
Hum Genet. 1987 Jul;76(3):230-5. doi: 10.1007/BF00283613.
5
Ascertainment bias and power of procedures to estimate differences between male and female mutation rates.确定偏差以及估计男性和女性突变率差异的程序的效能。
Hum Genet. 1987 Mar;75(3):296-7. doi: 10.1007/BF00281079.
6
Molecular analysis of muscular dystrophy.
J Muscle Res Cell Motil. 1988 Feb;9(1):1-8. doi: 10.1007/BF01682143.
7
A simple method for calculating risks before DNA analysis.一种在DNA分析前计算风险的简单方法。
J Med Genet. 1988 Oct;25(10):663-8. doi: 10.1136/jmg.25.10.663.
8
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.用肌营养不良蛋白cDNA研究的21个杜氏肌营养不良症（DMD）/贝克肌营养不良症（BMD）家系中的基因内缺失：断裂点在含HindIII和BglII外显子片段图谱上的定位、突变的减数分裂和有丝分裂起源。
Am J Hum Genet. 1988 Nov;43(5):620-9.
9
Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.甲型血友病突变频率的性别比：凝血测定和限制性片段长度多态性分析。
J Med Genet. 1991 Oct;28(10):672-80. doi: 10.1136/jmg.28.10.672.
10
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).杜兴氏肌肉营养不良症（DMD）中男性和女性突变率的估计。
Hum Genet. 1992 May;89(2):204-6. doi: 10.1007/BF00217124.
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.
利用连锁DNA多态性对杜氏肌营养不良症家系进行基因型预测。
J Med Genet. 1983 Aug;20(4):252-4. doi: 10.1136/jmg.20.4.252.
5
Duchenne muscular dystrophy. Frequency of sporadic cases.
Hum Genet. 1984;67(3):252-6. doi: 10.1007/BF00291351.
6
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).凝血因子IX基因（B型血友病位点）在人类X染色体上的区域定位及多态性
Proc Natl Acad Sci U S A. 1984 Jan;81(2):498-502. doi: 10.1073/pnas.81.2.498.
7
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.人类次黄嘌呤磷酸核糖基转移酶基因座的三等位基因限制性片段长度多态性。
Proc Natl Acad Sci U S A. 1983 Jul;80(13):4035-9. doi: 10.1073/pnas.80.13.4035.
8
[Serum creatine kinase and sulphydryl concentration after ischemic forearm work in patients and carriers of Duchenne's progressive muscular dystrophy].[杜兴氏进行性肌营养不良患者及携带者缺血性前臂运动后的血清肌酸激酶和巯基浓度]
Klin Wochenschr. 1971 Apr 15;49(8):488-94. doi: 10.1007/BF01485301.
9
Mutation rate in Duchenne type of muscular dystrophy.杜兴氏型肌营养不良症的突变率
J Med Genet. 1970 Dec;7(4):334-7. doi: 10.1136/jmg.7.4.334.
10
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.X和Y染色体遗传构成委员会报告
Cytogenet Cell Genet. 1985;40(1-4):296-352. doi: 10.1159/000132178.