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81.
The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers 总被引:5,自引:0,他引:5
J Zschocke CA Graham JJ McKnight NC Nevin 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):41-42
We present a simple, fast, non-radioactive method for the analysis of the polymorphic short tandem repeat (STR) system in the human phenylalanine hydroxylase gene. Previously, sizing of the STR marker involved radiolabelling of PCR amplified fragments and resolution on denaturing polyacrylamide gels using M13 sequencing ladder as a standard. However, this method consistently gave sizes 2 bp longer than the known sequence. The fluorescent method presented here employs internal lane standards and enables accurate sizing of the fragments. To avoid confusion, we suggest that the true fragment lengths are used as reference values in the future. The analysis of STR alleles is valuable for population genetic studies and for targeted mutation screening in phenylketonuria (PKU). It can replace RFLP-based haplotype analysis for carrier detection, and we report its use for prenatal diagnosis in a Northern Irish family with PKU. The analysis of 250 Northern Irish chromosomes, including 128 PKU alleles, showed no significant difference between normal and PKU alleles, with fragment lengths of 238 and 242 bp most common in both groups. 相似文献
82.
Molecular analysis of PKU in Ireland 总被引:1,自引:0,他引:1
CA O'Neill RC Eisensmith DT Croke ER Naughten SF Cahalane SLC Woo 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):43-44
Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of <10%. VNTR analysis showed that the R408W mutation is associated with the VNTR-8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR-3; an observation which has led several groups to propose a Balto-Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR-8 chromsome background in the Irish/Celtic population. 相似文献
83.
Fructosamine and glycated haemoglobin were measured simultaneously in 147 children with diabetes. If glycated haemoglobin is considered as the 'gold standard' for long term glycaemic control, then fructosamine is a poor indicator of actual glycated haemoglobin values, with wide 95% confidence (fiducial) limits. This shows that it is impossible to accurately predict glycated haemoglobin concentrations and therefore, by implication, longer term glycaemic control, from measurements of fructosamine. As the major studies on the prevention of microvascular complications in diabetes have used glycated haemoglobin levels to assess glycaemic control, it is suggested that this measurement should be used in all children with diabetes in preference to the measurement of fructosamine. 相似文献
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Flynn MA Hall K Noack A Clovechok S Enns E Pivnick J Naimish A Wouts P Best M Pryce C 《Canadian journal of public health. Revue canadienne de santé publique》2005,96(6):421-426
OBJECTIVE: To evaluate the acceptability and feasibility of a surveillance program of overweight and obesity in preschool children in Calgary, and to provide advice for families to promote healthy weights. PARTICIPANTS AND SETTING: Children (mean age 4.9+/-0.6 years) attending pilot-site clinics in September 2002 and all clinics in Calgary between February 2003-December 2003 (n=7048). INTERVENTION: The growth assessment protocol and resources supported a three-pronged approach to promote healthy weights (healthy eating, active living and positive body image). Public health nurses were trained in standardized measurement techniques and information resources. Links with physicians were made to facilitate continuity of care. Children's weight and height measurements were plotted on the Weight-for-Stature growth chart and used to identify children as obese (> or =95th percentile), healthy weight (> or =5th, <95th) or underweight (<5th). Subsequent analysis calculated the Body Mass Index (BMI)-for-Age to identify overweight children (> or =85th, <95th percentile). The protocol was pilot tested and subsequently implemented in all Calgary public health clinics. OUTCOMES: The majority (98%) of parents were either very happy or happy with information received during the visit. Public health nurse counselling confidence significantly improved after the pilot (p<0.001). Data indicated that 9% of children were obese, 15% were overweight and 3% were underweight. INTERPRETATION: This approach to identifying children's weight status appeared satisfactory to stakeholders, maximized use of existing resources to establish a surveillance program for Calgary, and provided an opportunity to give parents health-promoting advice on healthy weights. 相似文献
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Nagarajan S Enns GM Millan MT Winter S Sarwal MM 《Journal of inherited metabolic disease》2005,28(4):517-524
Summary Methylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy
with recurrent episodes of metabolic acidosis, developmental delay and failure to thrive. The disease course is complicated
by the development of chronic tubulointerstitial nephritis progressing to end-stage renal disease in adolescence. We describe
two adolescents with cobalamin-nonresponsive MMA (mut
0
) who developed polyuria, chronic tubulointerstitial nephritis, dystonia but normal synthetic liver function. Both patients
received combined liver–kidney transplantation (CLKT), preceded by a single pretransplant haemodialysis for clearance of methylmalonic
acid. Post CLKT there was 95–97% reduction in serum and urine methylmalonic acid, leading to significant liberalization of
dietary protein intake and a consequent increase in body mass index, muscle strength and energy. In addition, renal function
normalized and clinical neurological status stabilized. We propose that CLKT be considered as a therapeutic option early in
the course of cobalamin-nonresponsive MMA. Progressive tubulointerstitial nephritis with disabling polyuria is a confounder
in patient management even in the absence of end-stage renal disease. Successful CLKT restores methylmalonyl-CoA mutase enzyme
levels in the liver and kidney, improves clearance of methylmalonic acid with resultant dietary protein liberalization, and
offers excellent graft and patient outcomes with improvement in quality of life. 相似文献
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