Discriminant analysis of ribosomal protein synthesis findings in carrier detection of duchenne muscular dystrophy

Ionâşescu, Victor; Burmeister, Leon F.; Hanson, James W.

doi:10.1002/ajmg.1320050103

Cited by 14 publications

(6 citation statements)

References 15 publications

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“…In general, most studies have been by immunomicroscopy (Duance et al, 1980a,b;Stephens et al, 1982;Black et al, 1983) or by cell or tissue culture from affected biopsy samples (Hauschka & Konigsberg, 1966;Elsdale & Bard, 1972;Lipton, 1977;Stephens et al, 1980) or at the ribosomal level (Ionasecu et al, 1980). Direct biochemical analysis of the types and amounts of collagen in discrete muscle connective-tissue compartments has proven impossible, owing to the lack of a convenient method for the bulk separation of epimysium, perimysium and endomysium.…”

mentioning

confidence: 99%

Characterization of muscle epimysium, perimysium and endomysium collagens

Light¹,

Champion²

1984

Biochemical Journal

229

144

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In the past it has been proven difficult to separate and characterize collagen from muscle because of its relative paucity in this tissue. The present report presents a comprehensive methodology, combining methods previously described by McCollester [(1962) [301][302][303][304][305][306][307][308][309][310][311][312], in which the three major tracts of muscle connective tissue, the epimysium, perimysium and endomysium, may be prepared and separated from the bulk of muscle protein. Connective tissue thus prepared may be washed with salt and treated with pepsin to liberate soluble native collagen, or can be washed with sodium dodecyl sulphate to produce a very clean insoluble collagenous product. This latter type of preparation may be used for quantification of the ratio of the major genetic forms of collagen or for measurement of reducible cross-link content to give reproducible results. It was shown that both the epimysium and perimysium contain type I collagen as the major component and type III collagen as a minor component; perimysium also contained traces of type V collagen. The endomysium, the sheaths of individual muscle fibres, was shown to contain both type I and type III collagen as major components. Type V collagen was also present in small amounts, and type IV collagen, the collagenous component of basement membranes, was purified from endomysial preparations. This is the first biochemical demonstration of the presence of type IV collagen in muscle endomysium. The preparation was shown to be very similar to other type IV collagens from other basement membranes on sodium dodecyl sulphate/polyacrylamide-gel electrophoresis and was indistinguishable from EHS sarcoma collagen and placenta type IV collagen in the electron microscope after rotary shadowing.Collagen has long been known to form the main structural constituent of the connective tissue of muscle, providing a network of fibres throughout the body of each muscle. In skeletal muscle the tendon is continuous with both the epimysium (the muscle sheath) and the proliferative perimysium, which forms the bulk of the network mentioned above. At the microscopic level each muscle fibre is surrounded by a basement-membrane sheath, the endomysium, which has an associated reticular layer of fine collagen fibres (Hamm, 1965). The collagen network is continuous throughout the muscle from the endomysium to the tendon. In this way the force of muscle contraction is effectively and efficiently transmitted through the connective tissue to the bone.Collagen forms only 1-9% of the fat-free dry Abbreviation used: SDS, sodium dodecyl sulphate.

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mentioning

confidence: 99%

Characterization of muscle epimysium, perimysium and endomysium collagens

Light¹,

Champion²

1984

Biochemical Journal

229

144

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“…CK data, family studies, and segregation analyses of pedigrees of DMD families support this hypothesis [reviewed in Thompson et al, 19811 , but the application of some methods for carrier identification has indicated that in some series considerably more than two thirds of mothers with affected boys may be heterozygotes [Ionasescu et al, 1980;Bucher et al, 1980;Pickard et al, 1978;Roses et al, 1977a,b]. Although the four serum tests used in combination in the present study fail to identify a small proportion of known DMD carriers, their application to a group of possible carrier mothers in our series suggests that a proportion of these individuals are not carriers.…”

Section: Evidence For Bias Of Selection In the Group Of Possible Carrmentioning

confidence: 88%

“…Both for purposes of genetic counseling and to answer theoretical questions of population genetics, much effort is being spent to improve the identification of DMD carriers [Adornato et al, 1978;Alberts and Samaha, 1974;Danieli and Angelini, 1976a,b;Gale and Murphy, 1979;Ionasescu et al, 1980;Bucher et al, 1980;Percy et al, 1979aPercy et al, ,b, 1980Percy et al, , 1982Pickard et al, 1978;Roses et al, 1977a,b;Smith et al, 1979;Tagliavini et al, 1979;Weinstock et al, 1977;Zatz and Otto, 19801. Unfortunately, no single known method identifies carriers with 100% reliability.…”

Section: Introductionmentioning

confidence: 97%

“…Unfortunately, no single known method identifies carriers with 100% reliability. The literature is replete with proposed carrier detection tests based on fresh hypotheses [Ionasescu et al, 1980;Pickard et al, 1978;Roses et al, 1977a1, but none of these are simpler than older methods based on analysis of serum proteins [Adornato et al, 1978;Danieli et al, 1976a,b] or enzymes [Alberts and Samaha, 1974;Bucher et al, 1980;Percy et al, 1979bPercy et al, , 1980Roses et al, 1977b;Weinstock et al, 1977;Yasmineh et al, 19781. Therefore it has seemed logical to clarify the contributions that serum tests can make to carrier detection.…”

Section: Introductionmentioning

confidence: 98%

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Duchenne muscular dystrophy carrier detection using logistic discrimination: Serum creatine kinase, hemopexin, pyruvate kinase, and lactate dehydrogenase in combination

1982

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In the absence of an unambiguous test for identifying Duchenne muscular dystrophy (DMD) heterozygotes, methods are needed for combination of the results of individually equivocal tests as effectively and rationally as possible. Tw used logistic discrimination to assess the effectiveness of measurements of serum creatine kinase, hemopexin, pyruvate kinase, and lactate dehydrogenase alone and in various combinations in identifying DMD carriers. We analyzed 127 serum samples from 63 normal female controls (20-40 years old) and 67 from 38 obligate DMD carriers. The best two tests to use in combination were creatine kinase and hemopexin, and these two, with lactate dehydrogenase, were the best three. t the 95% level (with 5% of controls misclassified), 54% of the carriers were identified by CK alone, whereas 88% were identified by means of the four tests. Although a small proportion of known carriers still cannot be identified, application of the four tests to a group of 45 possible carrier mothers of isolated cases of DMD resolves the population into fairly discrete "normal" and "abnormal" subgroups. Thus, if bias of selection can be eliminated, application of logistic discrimination may permit a direct estimate of the proportion of mothers of affected boys who are homozygous normal.

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“…Ionasescu et al, [1980], employing discriminant analysis and ribosomal protein synthesis assays, claimed a sensitivity of 94%, but such assays require a muscle biopsy specimen. Zatz and Otto [1980] used discriminant analysis on CK and PK levels and reported a sensitivity of 83.4%.…”

Section: Discussionmentioning

confidence: 99%

Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

et al. 1983

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We have assessed the sensitivity and specificity of tests to detect carriers of Duchenne muscular dystrophy by use of three serum enzymes (creatine kinase, pyruvate kinase, and aldolase) and discriminant analysis in 21 obligate heterozygotes and 28 normal controls. We found no significant age effects on enzyme levels. Each enzyme level considered separately was significantly higher in heterozygotes. Use of logs improved discrimination, and log CK was sufficient by itself as a discriminant (that is, addition of other enzymes did not significantly improve discrimination). We present procedures to generate posteriori probabilities for genetic counselling that incorporate prior probabilities and enzyme levels. Our results show both improved sensitivity (90%) and specificity (86%).

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Discriminant analysis of ribosomal protein synthesis findings in carrier detection of duchenne muscular dystrophy

Cited by 14 publications

References 15 publications

Characterization of muscle epimysium, perimysium and endomysium collagens

Characterization of muscle epimysium, perimysium and endomysium collagens

Duchenne muscular dystrophy carrier detection using logistic discrimination: Serum creatine kinase, hemopexin, pyruvate kinase, and lactate dehydrogenase in combination

Improved detection of Duchenne muscular dystrophy heterozygotes using discriminant analysis of creatine kinase levels

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