Layla N. Al-Jader

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In northern Europe, about 90% of patients with hereditary haemochromatosis (HH) are homozygous for a single mutation (C282Y) of the HFE gene and approximately 1 in 150 people in the general population carries this genotype. However, the clinical significance of HFE mutations remains uncertain, as is the proportion of people homozygous for C282Y who will(More)
G A T C Nonsense mutations frequently cause severe illness because premature termination of messenger RNA translation usually creates unstable truncated proteins. However, Cutting et al' described two patients carrying nonsense mutations in each cystic fibrosis gene (G542X/ S1255X and R553X/W1316X) with severe pancreatic involvement but mild pulmonary(More)
We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations causing CF, with delta F508 accounting for(More)
A prototype database of published articles containing data on the frequency of human inherited disorders has been developed for use in clinical contexts, in medical research, for epidemiological studies, and in the planning of genetic services. It can be accessed at The information available in the literature comes from(More)
Information on parents' attitudes towards neonatal screening for cystic fibrosis (CF) and antenatal diagnosis by chorion villus biopsy (CVS) has been derived from a detailed questionnaire administered to parents of CF babies diagnosed early following newborn screening (18 babies), and later on account of clinical criteria (11 babies). Screening was by(More)
This study aimed to examine whether pregnant women made informed decisions based on an accurate understanding of the antenatal screening process and to explore their attitude to screening and termination of a Down syndrome fetus. Women's aspirations were the keystone that informed the development of the first strategy for antenatal screening for congenital(More)
A database of the frequency of human inherited disorders is being established for use in a clinical context, in medical research, for epidemiological studies, and in the planning of genetic services. Each entry includes the disease name categorized by organ system, an Online Mendelian Inheritance in Man (OMIM) number, the mode of inheritance, the population(More)
A detailed comparison of the severity of chest disease with mutational status was carried out by cross sectional study of 127 cystic fibrosis patients, aged 1 to 31 years, living in Wales. Lung disease was classified according to severity, depending on pulmonary function tests (carried out on 76 patients) and chest radiograph status; information was(More)