Saudi Cases Research Articles

DETECTION OF HETEROGENEOUS GROWTH HORMONE (GH) GENE SPLICING BY DNA ANALYSIS OF DRIED BLOOD SPOTS FROM GH DEFICIENT SUBJECTS

The molecular basis of familial isolated GH deficiency (IGHD) is heterogeneous. We have previously found a G → A transition in codon 20 of the GH gene that produces a stop codon and two donor splice site mutations (a T → C transition in the sixth base of IVSIII and G→ C transversion in the first base of IVS IV). The G→ C transversion, which destroys an HphI (GGTGA) restriction site at the exon IV/intron IV boundary (G/GTGA → G/CTGA), was found in a Saudi family with IGHD. To determine the frequency of this mutation among Saudi IGHD subjects, dried blood spots were analyzed from 12 additional Saudi cases from different families. The methodology involved a one-step PCR amplification of DNA obtained from 2 mm2 portions of dried blood spots which were collected on filter paper. These amplification products were then digested with HphI and analyzed on agarose gels. One subject was homozygous and the single, parental sample obtained was heterozygous for loss of this HphI site. Interestingly a simple repeat polymorphism adjacent to the GH gene differed between the two non-related Saudi subjects, who lacked the HphI site, suggesting that the GH mutaiions were independent. To determine if the GH mutations causing loss of the HphI site differed between the two Saudi IGHD cases, direct sequencing of the PCR products obtained from the filler paper samples was performed. In contrast 10 the firsi Saudi case which had a G→C transversion in the first base of IVS IV (G/CTGA) the second had a G→T transversion (G/TTGA). Analysis of the transcription products of the G→C mutation documented aberrant splicing and transcript analysis of the G→T mutation is being done for comparison. Our findings demonstrate 1) detection of GH splicing defects by restriction analysis and sequencing of DNA from dried blood spots and 2) 2/13 (15%) of Saudi IGHD subjects have IVS 3V donor splice site defects. These findings suggest that heterogeneous mutations which lead to transcript splicing errors may constitute a significant proportion of IGHD cases.

Leishmania infecting man and wild animals in Saudi Arabia. 5. Diversity of parasites causing visceral leishmaniasis in man and dogs in the south-west

Kala-azar (VL), mainly affecting infants and young children, is being increasingly reported in the south-west of Saudi Arabia, 305 cases being diagnosed in 1988. Most cases arise in scattered locations in the foothills west of the Asir mountains at altitudes between about 500 and 1000 m, although case clusters are apparent in some villages. Some cases also occur between the foothills and the Red Sea coast. The incidence in the south-west was calculated to be of the order of 6 to 8 10 000 population per year, but a random serological survey using the enzyme-linked immunosorbent assay and direct agglutination techniques indicated a seropositivity rate of about 3·7% in 706 apparently healthy children. Most patients are Saudi or Yemeni and cases are being increasingly identified also in the Yemen Arab Republic. In the foothills of both countries the causative organism is Leishmania donovani s.l. zymodeme LON-42, which also occurs on the eastern littoral of Ethiopia. By isoenzyme electrophoresis, it is readily separated from L. infantum, which has been identified in feral dogs, the 2 organisms being sympatric. The infection was found in 6·7% of 89 dogs, but their seropositivity rate was 19·3%. Although L. infantum has not yet been recognized in man in Saudi Arabia, it has been identified in a child in the coastal plain of the Yemen Arab Republic. Further research needed to provide a rational basis for control is discussed.

Deliberate Self-Harm in The Eastern Region of Saudi Arabia: A Hospital-Based Study

ABSTRACT This study comprises all Saudi cases of deliberate self-harm who were admitted to a university teaching hospital in the Eastern Province of the Kingdom of Saudi Arabia between 1 January 19...