DIAMOND-BLACKFAN ANEMIA: GENETIC HOMOGENEITY FOR A GENE ON CHROMOSOME 19q13 RESTRICTED TO 1.8 Mb 28

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

“…8,9 However, mutations of the RPS19 gene have only been identified in 25% of cases, 8,10 suggesting a greater degree of genetic heterogeneity than expected from the initial linkage studies. 7,11 In this report we provide evidence for the existence of a second DBA gene on chromosome 8p, and also for further genetic heterogeneity.…”

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

“…To exclude the possibility of a deletion involving the locus for DBA recently identified [Gustavsson et al, 1997], as well as a locus closely located and responsible for the additional phenotype, we genotyped the patient and her parents using high polymorphic markers spanning this locus. Haplotype reconstruction showed that the affected individual is heterozygous for the three markers used.…”

“…Genotyping of chromosome 19q13 region was carried out using three dinucletide repeats D19S420, D19S197, and D19S900 spanning the locus for Diamond-Blackfan anaemia [Gustavsson et al, 1997]. Marker D19S420 was present in the ABI-PRISM Linkage Mapping Set and was amplified according to the manufacture conditions.…”

“…The recurrence of a complex disorder in two sisters from apparently healthy consanguineous parents suggests autosomal recessive inheritance. To exclude the possibility of a contiguous gene deletion syndrome involving the DBA locus, we genotyped the patient and her parents using high polymorphic markers spanning the critical region for the DBA gene located on 19q13 [Gustavsson et al, 1997].…”

Human Calcium-Activated Potassium Channel GeneKCNN4Maps to Chromosome 19q13.2 in the Region Deleted in Diamond–Blackfan Anemia

“…Metaphase chromosome spreads from peripheral blood lymphocytes derived from a patient with Diamond-Blackfan anemia (DBA) were prepared according to standard techniques, and FISH was performed as previously described (4). Briefly, chromosome 19 cosmids 31001 (KCNN4) and 22135 (control) were labeled with either biotin or digoxigenin using nick-translation.…”