Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations.

The number of trinucleotide repeats in the 5' untranslated regions of the FMR1 and FMR2 genes was determined by PCR in 254 Fragile XA-negative Javanese male children with developmental disabilities. The distribution of FMR1 and FMR2 trinucleotide repeat alleles was found to be significantly different in the Indonesian population with developmental disability compared to that in developmentally disabled populations in North America and Europe (p & 0.021).

Suppression of HIV replication in vitro by CD8+ T-cells from HIV-infected and HIV-seronegative individuals.

The inhibitory effect of CD8+ T-cells from HIV-infected or HIV-seronegative individuals on HIV replication in the naturally-infected CD4+ T-cells in vitro was examined. Not only autologous CD8+ T-cells from HIV-infected individuals but also allogeneic CD8+ T-cells from HIV-seronegative individuals prevented or delayed HIV replication, even in transwell cocultures using a semi-permeable 0.45 micron filter.

Comparison of cord blood and adult blood lymphocyte normal ranges: a possible explanation for decreased severity of graft versus host disease after cord blood transplantation.

Lymphocyte subpopulations in cord blood (CB; collected at birth from full-term babies) were compared with that of adult blood (AB) and found to contain significantly different numbers and percentages of lymphocyte subpopulations. The absolute lymphocyte count was greater in CB (4.8 +/- 1.

Reassignment of human renin gene to chromosome 1q32 in studies of a (1;4)(q42;p16) translocation.

The human renin gene (REN) has been assigned to chromosome 1q42. Linkage studies are, however, inconsistent with this localization. We therefore reexamined the question of the location of REN using a patient whose distal chromosome 1q arm was translocated to chromosome 4 [(1;4)(q42;p16)].

Geographical distribution of acute lymphoblastic leukaemia subtypes: second report of the collaborative group study.

Childhood acute lymphoblastic leukemia (ALL) T and B precursor subtypes have been identified by standardised immunophenotyping in different geographic and ethnic settings. Comparison of the relative frequencies and estimated incidence rates of the major subtypes indicates very similar values, with the striking exception of black childhood populations in Africa in which there appears to be a significant and selective deficit in the incidence of the common (B-cell precursor) subset of ALL. There is suggestive evidence for a similar bias in ALL subtypes in South Africans of mixed ethnic origin and in Mapuche Indians from Chile.

Immunomagnetic bone marrow purging of common acute lymphoblastic leukemia cells: suitability of BioMag particles.

Immunomagnetic bone marrow purging is becoming a widely used technique in many bone marrow transplant centres. Most centres use Dynabead magnetic particles to facilitate the procedure. The suitability of a novel magnetic particle (BioMag) for immunomagnetic purging was addressed in this study.

Localization of human glandular kallikrein-1 gene to chromosome 19q13.3-13.4 by in situ hybridization.

Humans possess 3 fully characterized kallikrein-like genes. The gene expressed in kidney, pancreas and salivary gland (KLK), and the gene encoding prostate-specific antigen (APS) have been localized to chromosome 19q13.2-qter.

Ring chromosomes in hypodiploid and hypotetraploid clones from an elderly patient with plasma cell leukemia.

We describe a 77-year-old woman who had with what appears to be the first case of plasma cell leukemia (PCL) with a ring chromosome of variable size. Of the three clones evident, two of them were abnormal: a 41,X,-X hypodiploid clone with rings of two different sizes, and a 81-82,XX hypotetraploid clone with a double-sized dicentric ring or variable double rings. Additional structural and numerical abnormalities included a 14q+ marker, deletions of two chromosomes 1 and monosomies 8 and 13, all previously reported in PCLs.

Comparison of thromboplastins using the ISI and INR system.

Twelve thromboplastins were tested against a secondary reference thromboplastin (human brain CRM BCR No. 147) or a tertiary house standard (human brain thromboplastin) with plasmas from normal healthy individuals and patients on oral anticoagulant therapy. The relationship between the prothrombin ratios of the thromboplastins tested versus the reference reagent was either a straight or curved line.

Localization of human cardiac beta-myosin heavy chain gene (MYH7) to chromosome 14q12 by in situ hybridization.

The genes coding for each human cardiac myosin heavy chain (alpha-MHC and beta-MHC, MYH6 and MYH7, respectively) are tightly linked and the alpha-MHC gene has been assigned to chromosome 14. In order to provide a more precise regional localization, in situ hybridization experiments were carried out using a 3H-labeled probe derived from a beta-MHC genomic clone. The results demonstrated that the human cardiac MHC genes are located within the q12 band of chromosome 14.

Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion.

A 2-year-old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2----q13.1.

Familial splenomegaly syndrome with reduced circulating T helper cells and splenic germinal centre hypoplasia.

Familial splenomegaly is a rare occurrence and is occasionally associated with immune abnormalities. We report three members of a family with massive splenomegaly associated with a reduction in circulating T helper cells, a reversed T4/T8 ratio and cutaneous anergy. The spleen and lymph nodes were shown in one family member to have germinal centre hypoplasia with T helper cells being present in normal numbers and distribution in these tissues.

Deletion 15q21.1----q22.1 resulting from a paternal insertion into chromosome 5.

A 15 month old boy with an interstitial deletion 15q derived from a paternal insertion (5;15)(q31.3;q21.1q22.

Bone-marrow transplantation for thalassaemia.

An 18-month-old boy with beta-thalassaemia major underwent bone-marrow transplantation with marrow from his 30-month-old brother. The brother was HLA-identical, mixed-lymphocyte culture non-reactive and had thalassaemia minor. The patient was "conditioned" with busulphan and cyclophosphamide before transplantation and received methotrexate to prevent graft-versus-host disease.

Bone-marrow transplantation for haematological malignancy in childhood.

Twenty-three children with haematological malignancies and a poor prognosis underwent bone-marrow transplantation. Thirteen children had acute lymphoblastic leukaemia, eight had acute nonlymphoblastic leukaemia, one had chronic myeloid leukaemia and one had malignant histiocytosis. One child was in relapse at the time of transplant and 22 were in first or subsequent remission.