X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations

Barbara R. Migeon; Vazken M. Der Kaloustian; William L. Nyhan; William J. Young; Barton Childs

doi:10.1126/science.160.3826.425

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations

Barbara R. Migeon, Vazken M. Der Kaloustian, William L. Nyhan, William J. Young, Barton Childs

School of Medicine

Research output: Contribution to journal › Article › peer-review

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Abstract

Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of ³H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate ³H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

Original language	English (US)
Pages (from-to)	425-427
Number of pages	3
Journal	Science
Volume	160
Issue number	3826
DOIs	https://doi.org/10.1126/science.160.3826.425
State	Published - 1968

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title = "X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations",

abstract = "Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.",

author = "Migeon, {Barbara R.} and {Der Kaloustian}, {Vazken M.} and Nyhan, {William L.} and Young, {William J.} and Barton Childs",

year = "1968",

doi = "10.1126/science.160.3826.425",

language = "English (US)",

volume = "160",

pages = "425--427",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

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T1 - X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency

T2 - Heterozygote has two clonal populations

AU - Migeon, Barbara R.

AU - Der Kaloustian, Vazken M.

AU - Nyhan, William L.

AU - Young, William J.

AU - Childs, Barton

PY - 1968

Y1 - 1968

N2 - Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

AB - Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

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VL - 160

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EP - 427

JO - Science

JF - Science

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X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations

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