Diverse mutations of the P gene among African - Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

Seung Taek Lee, Robert D. Nicholls, Rhonda E. Schnur, Leticia C. Guida, Jennifer Lu-Kuo, Nancy B. Spinner, Elaine H. Zackai, Richard A. Spritz

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African - American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African - American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African - American patients with OCA2.

Original languageEnglish
Pages (from-to)2047-2051
Number of pages5
JournalHuman Molecular Genetics
Volume3
Issue number11
Publication statusPublished - 1994 Nov 1

Fingerprint

African Americans
Mutation
Genes
Oculocutaneous Albinism
Melanins
Point Mutation
Hair
Oculocutaneous albinism type 2
Skin

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Lee, S. T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., ... Spritz, R. A. (1994). Diverse mutations of the P gene among African - Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Human Molecular Genetics, 3(11), 2047-2051.
Lee, Seung Taek ; Nicholls, Robert D. ; Schnur, Rhonda E. ; Guida, Leticia C. ; Lu-Kuo, Jennifer ; Spinner, Nancy B. ; Zackai, Elaine H. ; Spritz, Richard A. / Diverse mutations of the P gene among African - Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). In: Human Molecular Genetics. 1994 ; Vol. 3, No. 11. pp. 2047-2051.
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abstract = "Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African - American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African - American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African - American patients with OCA2.",
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Lee, ST, Nicholls, RD, Schnur, RE, Guida, LC, Lu-Kuo, J, Spinner, NB, Zackai, EH & Spritz, RA 1994, 'Diverse mutations of the P gene among African - Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)', Human Molecular Genetics, vol. 3, no. 11, pp. 2047-2051.

Diverse mutations of the P gene among African - Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). / Lee, Seung Taek; Nicholls, Robert D.; Schnur, Rhonda E.; Guida, Leticia C.; Lu-Kuo, Jennifer; Spinner, Nancy B.; Zackai, Elaine H.; Spritz, Richard A.

In: Human Molecular Genetics, Vol. 3, No. 11, 01.11.1994, p. 2047-2051.

Research output: Contribution to journalArticle

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AU - Lee, Seung Taek

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AU - Schnur, Rhonda E.

AU - Guida, Leticia C.

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N2 - Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African - American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African - American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African - American patients with OCA2.

AB - Type II (tyrosinase-positive) oculocutaneous albinism (OCA2) is an autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in the skin, hair, and eyes. OCA2, which we have shown results from mutations of the P gene in Caucasians, is the most prevalent type of oculocutaneous albinism in African and African - American patients with OCA. We have identified abnormalities of the P gene in seven unrelated African - American patients with OCA2, including three large deletions, two small in-frame deletions, and six different point mutations. None of these appears to be predominant among African - American patients with OCA2.

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