Constitutive heterochromatin of chromosome 1 and Duffy blood group alleles in schizophrenia

N. S. Kosower, L. Gerad, M. Goldstein, N. Parasol, Y. Zipser, M. Ragolsky, S. Rozencwaig, E. Elkabetz, Y. Abramovitch, B. Lerer, A. Weizman

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Cytogenetic analysis was carried out in unrelated schizophrenic patients, unrelated controls and patients and family members in multiplex families. The size distribution of chromosome 1 heterochromatic region (1qH, C-band variants) among 21 unrelated schizophrenic patients was different from that found in a group of 46 controls. The patient group had 1qH variants of smaller size than the control group (P < 0.01). Incubation of phytohemagglutinin-treated blood lymphocytes with 5-azacytidine (which causes decondensation and extension of the heterochromatin) led to a lesser degree of heterochromatin decondensation in a group of patients than in the controls (7 schizophrenic, 9 controls, P < 0.01). The distribution of phenotypes of Duffy blood group system [whose locus is linked to the 1qH region (Donahue et al.: Proc Natl Acad Sci USA 61:949-955, 1968; Rouleau et al.: Genomics 7:313- 318, 1990)] among 28 schizophrenic patients was also different from that in the general population. Cosegregation of schizophrenia with a 1qH (C-band) variant and Duffy blood group allele was observed in one of six multiplex families. The overall results suggest that alterations within the Duffy/1qH region are involved in schizophrenia in some cases. This region contains the locus of D5 dopamine receptor pseudogene 2 (1q21.1), which is transcribed in normal lymphocytes (Takahashi et al.: FEBS Lett 314:23-25, 1992).

Original languageEnglish
Pages (from-to)133-138
Number of pages6
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number2
StatePublished - 24 Apr 1995
Externally publishedYes


  • C-band variants
  • C-banding
  • chromosome 1 variants
  • genetic markers in schizophrenic patients


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