Identification of new markers in Xp21 between DXS28 (C7) and DMD

Characterization of Xp21 distal to Duchenne muscular dystrophy (DMD) in the region containing the genes for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GKD) has been limited due to a paucity of probes. Two probes were localized between DXS28 (C7) and AHC, the yeast artificial chromosome insert YHX39 (DXS727) and the polymorphic phage clone QST59 (DXS319). A genomic clone, FT1 (DXS726), 3' to DMD, was also characterized. Portions of the three probes were sequenced and primer pairs were generated to amplify a sequence-tagged site within each probe. Amplification of DNA from patients confirmed the deletion results obtained by Southern blot analysis, and these three sequence-tagged sites were successfully combined for triplex PCR. In addition to facilitating molecular genetic diagnosis in Xp21, these probes can be used to identify additional YACs and other probes to further increase the genomic information and diagnostic capabilities in this region.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/29935/1/0000292.pd

CLINICAL STUDIES WITH RECOMBINANT-DNA-DERIVED METHIONYL HUMAN GROWTH HORMONE IN GROWTH HORMONE DEFICIENT CHILDREN

Thirty-six children with growth hormone deficiency were treated for up to 48 months with methionyl human growth hormone (hGH) synthesised by DNA recombinant methods. The growth rate for these children increased from 3[middle dot]2+/-1[middle dot]1 cm/yr to 10 [middle dot] 5+/-2[middle dot]2 cm/yr (mean+/-SD). This was similar to the effect of pituitary hGH in ten GH deficient children, 3[middle dot]8+/-1[middle dot]0 to 10[middle dot]1+/-1[middle dot]1 cm/yr. Serum somatomedin C rose from 0[middle dot]26+/-0[middle dot]23 U/ml to 0[middle dot]79+/-0[middle dot]53 U/ml after 6 months of methionyl-hGH therapy, similar to the effect of pituitary hGH. The incidence of antibody formation to methionyl-hGH was higher than that observed with pituitary hGH (Kabi) but poor growth was observed only in the one patient on methionyl-hGH who acquired high-titre high-binding-capacity antibodies to hGH. No consistent changes in levels of antibodies to Escherichia coli proteins were detected. No other allergic manifestations or systemic side-effects were demonstrable.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/26226/3/0000306.pd