Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency

American Journal of Human Genetics

Volumn 59, Issue 4, 1996, Pages 887-895

  Filosa, Stefania ^b   Giacometti, Nunzia ^b   Wangwei, Cai ^b   De Mattia, Domenico ^b   Pagnini, David ^b   Alfinito, Fiorella ^b   Schettini, Francesco ^b   Luzzatto, Lucio ^b   Martini, Giuseppe ^a  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL PROLIFERATION; CELL SELECTION; CELL SURVIVAL; GENE MUTATION; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMATOPOIESIS; HETEROZYGOTE; HUMAN; HUMAN CELL; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEX CHROMOSOME MOSAICISM; SOMATIC CELL;

AUTORADIOGRAPHY; BLOOD CELLS; DOSAGE COMPENSATION, GENETIC; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY; HEMATOPOIESIS; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MOSAICISM; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER; X CHROMOSOME;

EID: 0029842792     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Allen RC, Nachtman RG, Rosenblatt HM, Belmont JW (1994) Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet 54:25-35
2. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239
3. Beutler E (1964) The distribution of gene products among population of cells in heterozygous humans. Cold Spring Harb Symp Quant Biol 29:261-271
4. _ (1986) X-inactivation in females heterozygous for G-6-PD variants. In: Yoshida A, Beutler E (eds) Glucose 6-phosphate dehydrogenase. Academic Press, New York, pp 405-415
5. Beutler E, Hartman K, Gelbart T, Forman L (1986) G-6-PD Walter Reed: possible insight into "structural" NADP in G-6-PD. Am J Hematol 23:25-30