Demonstration of the Heterozygous State in Hunter's Syndrome-Reference-Cited by-同舟云学术

Demonstration of the Heterozygous State in Hunter's Syndrome

Published:1974-03-01 Issue:3 Volume:53 Page:396-399
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Booth Carol W.¹,Nadler Henry L.¹

Affiliation:

1. Department of Pediatrics, Northwestern University, and the Division of Genetics, Children's Memorial Hospital, Chicago, Illinois

Abstract

In vitro manipulation of tissue culture conditions may provide a valuable tool for ascertaining carrier status in inborn errors of metabolism. Skin fibroblast cultures from five obligate heterozygotes and three potential heterozygotes for Hunter's syndrome displayed abnormal mucopolysaccharide metabolism after prolonged maintenance in culture or routine freezing. The mechanism for this phenomenon appears to be preferential survival of cells carrying the Hunter gene. Tissue culture techniques appear to permit identification of Hunter heterozygotes.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/53/3/396/935483/396.pdf

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biochemical and Biologic Problems and Pitfalls in the Prenatal Diagnosis of Inborn Errors of Metabolism;Genetic Disorders and the Fetus;1986

2. Biochemical and Biological Problems and Pitfalls of Cell Culture for Prenatal Diagnosis;Genetic Disorders and the Fetus;1979

3. Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism;Genetic Disorders and the Fetus;1979

4. Detection of heterozygotes;Medico-Social Management of Inherited Metabolic Disease;1977

5. Prenatal Detection of Genetic Defects;Advances in Pediatrics;1975