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Literature DB >> 820627

Fabry's disease: heterozygote detection by hair root analysis.

Abstract

Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of alpha-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.

Entities: Disease

Mesh：

Substances：
Galactosidases

Year: 1976 PMID： 820627 DOI： 10.1007/BF00295824

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

13 in total

1. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors: R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal: Proc Natl Acad Sci U S A Date: 1963-09 Impact factor: 11.205

Fabry's disease: heterozygote detection by hair root analysis.

1. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Review 2. The applications of genetic mosaicism to developmental problems.

3. Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

4. Glucose-6-phosphate dehydrogenase mosaicism: ito;ozatopm om tje study of hair follicle variegation.

5. An example of rapid prenatal diagnosis of Fabry's disease using microtechniques.

6. Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.

7. Fabry's disease: differentiation between two forms of -galactosidase by myoinositol.

8. Gene action in the X-chromosome of the mouse (Mus musculus L.).

9. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.

10. Fabry's disease: alpha-galactosidase deficiency.

Review 1. Basic findings and current developments in sphingolipidoses.

2. Anderson-Fabry disease: rapid detection of carriers by hair bulb analysis.

3. Hair root diagnosis of Fabry's disease.

4. Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

5. Determination of arylsulfatase C in hair follicles.

6. Detection of hunter heterozygotes by enzymatic analysis of hair roots.

7. Protein biosynthesis in cultured human hair follicle cells.

8. A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: comparison with erythrocyte activity.