A New Method for the Detection of Lesch-Nyhan Heterozygotes by Peripheral Blood T Cell Culture Using T Cell Growth Factor

• Published in: Blood Vol. 63; no. 4; pp. 912 - 916
• Main Authors: Kamatani, Naoyuki, Yamanaka, Hisashi, Nishioka, Kusuki, Nakamura, Tsuneyoshi, Nakano, Kei-ichiro, Tanimoto, Kiyoaki, Mizuno, Tei-ichi, Nishida, Yutaro
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.1984
• Subjects: Adolescent; Cell Division; Cells, Cultured; Child; Culture Media; Female; Genetic Carrier Screening - methods; Humans; Interleukin-2 - physiology; Lesch-Nyhan Syndrome - blood; Lesch-Nyhan Syndrome - genetics; Lymphocyte Activation; Male; T-Lymphocytes - cytology; T-Lymphocytes - pathology; Thioguanine - pharmacology
• ISSN: 0006-4971; 1528-0020; 1528-0020
• DOI: 10.1182/blood.V63.4.912.912

Thieguanine-resistant T lymphoblast populations were selectively amplified using T cell growth factor in the cultures of peripheral blood T cells from four Lesch-Nyhan heterozygotes. Although Lesch-Nyhan T lymphoblasts were all thioguanine-resistant, none of the cultures from 13 control subjects yielded the growth of such defective cell populations. These data provide direct evidence for the existence of a small percentage (5%-40%) of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficient T cells in the heterozygotes, but not in normal individuals. Conversely, culture of the T lymphoblasts with azaserine plus hypoxanthine permitted the growth of the other part of the cell population that was enzyme positive. The low percentages of HGPRT-negative cells among T cells in heterozygotes suggest that the presence of this enzyme is beneficial for differentiation of lymphocytes of T cell linkage. Considering the ease and the reliability, culture of the peripheral T cells with thioguanine and T cell growth factor is very likely of practical use for detecting Lesch-Nyhan syndrome carriers among predisposed females.