Discussion on “The design of rolling stock for electric railways”

Casson, W.; Firth, Hamish; Sparks, J.B.; Burnett, R H; Mason, Carl; Bowden, J.; Smith, Shamus P.; Carter, Faustin W.; Burgess, W.A.A.; Lewis, W.Y.; Baker, Colin; O'Brien, H.E.

doi:10.1049/jiee-1.1914.0035

Cited by 1 publication

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“…The levels of Hb F produced by individuals II-1 and III-1 are within the range expected for homozygous sickle cell disease at their respective ages (23,24 ceeds Hb S. This compensatory reduction of /3A-globin synthesis in cis to the Gyp+ HPFH mutation has been noted previously (3,(7)(8)(9) (25)(26)(27). This analysis is shown in Fig.…”

Section: Resultssupporting

confidence: 81%

G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.

Collins¹,

Stoeckert²,

Serjeant³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

133

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Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition in which the normal shutoff of fetal hemoglobin (Hb F) production fails to occur. In the G gamma beta+ type of HPFH, erythrocytes of adult heterozygotes contain approximately equal to 20% Hb F, which is almost exclusively of the G gamma-globin variety, without increased levels of gamma-globin chains from the nearby A gamma-globin gene. Unlike some forms of HPFH, no major deletions in the globin gene cluster have been found by genomic blotting in the G gamma beta+ variety. We report here a family with this condition, from which cosmid clones of the beta-globin gene cluster from the G gamma beta+ HPFH allele have been obtained. Sequencing around the fetal genes has identified a point mutation 202 base pairs 5' to the G gamma-globin gene that is present in genomic DNA of 3/3 unrelated individuals with G gamma beta+ HPFH but in none of more than 100 non-HPFH individuals. Although the mutation could represent a tightly linked polymorphism, its location in a region suggested by recent data to be important in tissue-specific control of gene expression suggests the possibility that the -202 mutation accounts for the phenotype. The sequence created resembles elements of other eukaryotic promoters known to be important for efficient transcription.

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