ADRENOLEUKODYSTROPHY - A MOLECULAR GENETIC-STUDY IN 5 FAMILIES

被引：6

作者：

DELMASTRO, RG

BUNDEY, S

KILPATRICK, MW

机构：

[1] University of Birmingham, Clinical Genetics Dept., Birmingham Maternity Hospital, Edgbaston

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 11期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.27.11.670

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A genetic study has been performed on five adrenoleucodystrophy families using DNA probes from Xq28. Members of each family had previously been tested for carrier status using the biochemical assay for very long chain fatty acids (VLCFAs), but several persons at risk had equivocal results. DNA analysis with four DNA probes St14-1 (DXS52), DX13 (DXS15), MN12 (DXS33), and hs7 showed no crossovers between them and the disease locus in persons who were clinically affected or had high levels of VLCFA or both. Thus, the genotypes provided by the DNA probes could be used for accurate carrier detection and prenatal diagnosis could be offered. Of the 17 at risk females with VLCFA levels in the normal (1 SD) range, five were defined as carriers and 12 were considered not to be.

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页码：670 / 675

页数：6

相关论文

共 19 条

[1] LINKAGE OF ADRENOLEUKODYSTROPHY TO A POLYMORPHIC DNA PROBE [J].

AUBOURG, PR ;

SACK, GH ;

MEYERS, DA ;

LEASE, JJ ;

MOSER, HW .

ANNALS OF NEUROLOGY, 1987, 21 (04) :349-352

[2]

AUBOURG PR, 1988, AM J HUM GENET, V42, P408

[3]

BRIDGE P J, 1989, American Journal of Human Genetics, V45, pA177

[4] REPORT OF THE COMMITTEE ON THE GENETIC CONSTITUTION OF THE X-CHROMOSOMES AND Y-CHROMOSOMES [J].

DAVIES, KE ;

MANDEL, JL ;

WEISSENBACH, J ;

FELLOUS, M .

CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4) :277-315

[5] MOLECULAR-PATTERNS OF X-CHROMOSOME-LINKED COLOR-VISION GENES AMONG 134 MEN OF EUROPEAN ANCESTRY [J].

DRUMMONDBORG, M ;

DEEB, SS ;

MOTULSKY, AG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (03) :983-987

[6]

FEINBERG AP, 1984, ANAL BIOCHEM, V137, P226

[7] ADRENOMYELONEUROPATHY - PROBABLE VARIANT OF ADRENOLEUKODYSTROPHY .1. CLINICAL AND ENDOCRINOLOGIC ASPECTS [J].

GRIFFIN, JW ;

GOREN, E ;

SCHAUMBURG, H ;

ENGEL, WK ;

LORIAUX, L .

NEUROLOGY, 1977, 27 (12) :1107-1113

[8] PEROXISOMAL LIGNOCEROYL-COA LIGASE DEFICIENCY IN CHILDHOOD ADRENOLEUKODYSTROPHY AND ADRENOMYELONEUROPATHY [J].

LAZO, O ;

CONTRERAS, M ;

HASHMI, M ;

STANLEY, W ;

IRAZU, C ;

SINGH, I .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (20) :7647-7651

[9] ADRENOLEUKODYSTROPHY - EVIDENCE FOR X LINKAGE, INACTIVATION, AND SELECTION FAVORING THE MUTANT ALLELE IN HETEROZYGOUS CELLS [J].

MIGEON, BR ;

MOSER, HW ;

MOSER, AB ;

AXELMAN, J ;

SILLENCE, D ;

NORUM, RA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08) :5066-5070

[10] ADRENOLEUKODYSTROPHY - SURVEY OF 303 CASES - BIOCHEMISTRY, DIAGNOSIS, AND THERAPY [J].

MOSER, HW ;

MOSER, AE ;

SINGH, I ;

ONEILL, BP .

ANNALS OF NEUROLOGY, 1984, 16 (06) :628-641