Studies on hair roots for carrier detection in hypoxanthine‐guanine phosphoribosyl transferase deficiency

Bruyn, C. H. M. M. de; Oei, T. L.; Haar, B. G. A. ter

doi:10.1111/j.1399-0004.1974.tb01718.x

Cited by 26 publications

(6 citation statements)

References 14 publications

(13 reference statements)

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“…Study of new mutation in X-linked recessive disease must take into account the ac-curacy of the carrier detection method. Carrier detection for X-linked recessive diseases is most accurate in cases such as Lesch-Nyhan syndrome where the gene defect is known and cells of clonal origin can be readily studied from the suspected carrier (Bruyn et al 1974). The study of cells of clonal origin in the suspected female carrier improves detection made difficult by random inactivation of the X-chromosome (Lyon 1961).…”

Section: Discussionmentioning

confidence: 99%

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

et al. 1980

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The mechanism of inheritance of sporadically occurring Duchenne muscular dystrophy has been investigated in 42 families, using carrier detection methods and genetic evaluation. Our studies find that serum CPK detects 72 % of female carriers of DMD. Quantitative LDH and/or its isozymes were not found to be a useful means of carrier detection, as reported by Roses et al. (1977). Employing family pedigree data and CPK carrier testing, we determined by Bayesian methods the probability that the mother and maternal grandmother in these families were DMD carriers. These studies revealed 23 families (Category I) with no evidence for DMD carriers, 11 families (Category 11) in which the mother was found to be a carrier, and 3 families (Category III) in which both mother and maternal grandmother were found to be carriers. Nineteen of the 42 families have a greater than 83 % probability that the sporadic DMD case arose by mutation in a maternal gamete. This finding is in good agreement with the theoretically expected ⅓ of DMD cases arising by new mutation.

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Section: Discussionmentioning

confidence: 99%

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

et al. 1980

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“…Gartler et al (1969) presented analysis from a small number of follicles to examine the possibility of variegation of the scalp epidermis. This work has been quoted variously as evidence that individual hair follicles or the scalp epidermis in general derive from a small number of cells (Gart-ler et al 1971, de Bruyn et al 1974, Grimm et al 1976, Romeo et al 1976). Visible variegation of coat color in mice can occur based on X-linked genetic control (Russell & Bangham 1961), and the distribution of sweat glands in human females heterozygous for X-linked anhidrotic ectodermal dysplasia suggests that rather gross variegation of ectodermal structures does occur (Kline et al 1959).…”

Section: Discussionmentioning

confidence: 98%

Detection of Fabry's disease heterozygotes by hair root analysis

Beaudet

1978

Clinical Genetics

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The α‐galactosidase/β‐hexosaminidase ratio was measured for individual hair roots as a method for heterozygote detection in Fabry's disease. Hair root analysis in control individuals revealed no striking sex difference in α‐galactosidase/β‐hexosaminidase ratio when five males and five females were compared. The values for the ratio × 100, calculating both enzyme activities in nmol of product per min per ×l of hair extract, ranged from 0.8 to 9 for controls and from <0.1 to 0.4 for two hemizygous males. Hair root analysis in four heterozygotes with clinical evidence of disease gave values for each individual in the control range, in the range for hemizygotes and in an intermediate range. The experience using hair root analysis for heterozygote detection in the X‐linked Lesch‐Nyhan syndrome suggests that this approach will be a sensitive heterozygote detection method which takes advantage of the occurrence of hairs with a deficient phenotype on the basis of Lyonization. We observed an affected male who was born to a female without clinical or biochemical evidence (examination included extensive hair root analysis) of Fabry's disease, thus documenting a likely instance of new mutation.

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“…The more or less clonal origin of hair roots (Gartler et al 1969) and the random inactivation of one of the X-chromosomes in female cells (Lyon 1961), predict a mosaicism of hair roots with normal, mutant and intermediate activities for any X-linked enzyme in females heterozygous for a deficiency of that enzyme. This approach has been successfully applied to carrier detection in X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Gartler et al 1971, de Bruyn et al 1974.…”

Section: Discussionmentioning

confidence: 99%

An unusual form of galactosemia: Studies on erythrocytes and hair roots

et al. 1978

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An unusual form of galactosemia is described in a 7‐month‐old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose‐1‐phosphate uridyl transferase (GT) was measured with the spectrophotometric UDP‐Glucose consumption test (±25% of normal). The residual activity in erythrocyte lysates, determined when the patient was 7, 16 and 22 months old, significantly decreased upon storage and after preincubation with NAD‐ase. The radiochemical measurement of GT activity demonstrated a severe deficiency: only a level of ± 1% of normal activity was observed, and no effects of storage or NAD‐ase could be demonstrated. GT and galactokinase (GK) activities were measured radiochemically in lysates from hair roots obtained from the human scalp, and it was found that the GT/GK activity ratio is a useful index for the detection of heterozygotes. Erythrocyte and hair root lysates from the heterozygous parents of the patient displayed GT/GK ratios which were intermediate between mutant and normal. Because they offer a simple and fast way to obtain biopsy material, hair roots might become of increasing importance for carrier detection studies.

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Studies on hair roots for carrier detection in hypoxanthine‐guanine phosphoribosyl transferase deficiency

Cited by 26 publications

References 14 publications

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation

Detection of Fabry's disease heterozygotes by hair root analysis

An unusual form of galactosemia: Studies on erythrocytes and hair roots

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