Abstract：
:The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy controls and patients with coronary artery disease, were included. The mean age (+/-SD) of the patients and controls were 57.5 +/- 10.6 years and 56.8 +/- 11.0 years, respectively. All the patients underwent coronary angiography; 33, 58, 63, and 98 patients had normal coronaries, single-, two-, or triple-vessel disease, respectively. A third of the patients had suffered from a myocardial infarction. The genotype distribution conforming to Hardy-Weinberg equilibrium was similar for cases and controls. The mean HDL cholesterol increased from B1B1 through B2B2 genotype in controls and sedentary male patients. Self-reported leisure time physical activity, consisting mostly of an hour of morning walk daily, was associated with a rise in mean HDL cholesterol in male controls (33.6 +/- 7.9 mg/dl to 36.2 +/- 8.9 mg/dl, p = 0.037) and patients (32.4 +/- 7.9 mg/dl to 35.7 +/- 11.0 mg/dl; p = 0.018). The exercise-associated rise in HDL cholesterol was most pronounced in controls (32.1 +/- 9.1 mg/dl to 36.8 +/- 9.3 mg/dl, p = 0.05) and male patients (30.5 +/- 7.4 mg/dl to 37.2 +/- 9.7 mg/dl, p = 0.007) with B1B1 rather than B1B2 or B2B2 genotype. The results suggest a possible gene-environment interaction in the regulation of HDL cholesterol that needs to be confirmed in other populations and larger samples to rule out a chance occurrence.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Mukherjee M,Shetty KRdoi
10.1111/j.0009-9163.2004.0237.xsubject
Has Abstractpub_date
2004-05-01 00:00:00pages
412-8issue
5eissn
0009-9163issn
1399-0004pii
CGE237journal_volume
65pub_type
杂志文章abstract：:The significance of variation within the genes coding for three glucose transporter proteins in the aetiology of non-insulin dependent diabetes mellitus was assessed by analysing restriction fragment length polymorphisms in an English Caucasian population. Two polymorphisms at the HepG2/erythrocyte glucose transporter...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03252.x
更新日期：1992-11-01 00:00:00
abstract：:Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syn...
journal_title：Clinical genetics
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doi：10.1111/j.1399-0004.1977.tb01299.x
更新日期：1977-03-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1997.tb02409.x
更新日期：1997-01-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1985.tb02045.x
更新日期：1985-06-01 00:00:00
abstract：:Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...
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pub_type： 杂志文章
doi：10.1111/j.1399-0004.2008.01056.x
更新日期：2009-01-01 00:00:00
abstract：:A follow-up study of 212 families for whom genetic counseling had been provided was performed to assess the effectiveness of the non-directive genetic counseling service at the Mount Sinai Medical Center in New York City. The preliminary result have been reported previously (Godmilow & Hirschhorn 1977). Of those famil...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1980.tb00106.x
更新日期：1980-01-01 00:00:00
abstract：:Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1983.tb02234.x
更新日期：1983-09-01 00:00:00
abstract：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.620205.x
更新日期：2002-08-01 00:00:00
abstract：:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb01279.x
更新日期：1977-01-01 00:00:00
abstract：:A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker ch...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1991.tb03054.x
更新日期：1991-06-01 00:00:00
abstract：BACKGROUND:A genetic test for hemochromatosis has allowed for the first time, genotypic identification of heterozygotes. The purpose of this study is to determine whether genotyping of spouses of homozygotes results in fewer investigations of children and subsequent cost savings. METHODS:Two hundred and ninety one chi...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1998.tb02672.x
更新日期：1998-03-01 00:00:00
abstract：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2007.00903.x
更新日期：2007-12-01 00:00:00
abstract：:The genetic mechanisms driving normal brain development remain largely unknown. We performed genomic and immunohistochemical characterization of a novel, fatal human phenotype including extreme microcephaly with cerebral growth arrest at 14-18 weeks gestation in three full sisters born to healthy, non-consanguineous p...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12197
更新日期：2014-05-01 00:00:00
abstract：:Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA; MPS IIIA) is caused by a deficiency of the lysosomal enzyme haparan N-sulphatase (NS). The genomic DNA segments of the NS gene from two Chinese patients with MPS IIIA were amplified by polymerase chain reaction, followed by DNA sequencing to study the molecu...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.2002.610304.x
更新日期：2002-03-01 00:00:00
abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2008.01138.x
更新日期：2009-05-01 00:00:00
abstract：:We report two children, the products of a consanguineous union, who died in infancy. Both children had severe microcephaly intracranial calcification, lissencephaly and polymicrogyria. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1986.tb00578.x
更新日期：1986-08-01 00:00:00
abstract：:On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologicall...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb01287.x
更新日期：1977-02-01 00:00:00
abstract：:Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4-30% of microphthalmia, with the lowest rate in unilateral cases. We identified four novel pathogenic loss-of-function all...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.13897
更新日期：2020-12-13 00:00:00
abstract：:The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, autism, and psychiatric conditions. This deletion is inherited in approximately 75% of cases and has been found in mildly affected and normal parents, consistent with ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2012.01925.x
更新日期：2013-04-01 00:00:00
abstract：:Approximately one in three individuals will be affected by cancer in their lifetime in the United States, and some are at elevated risk because of family history. Although assessment of family history of cancer and cancer risk is the standard of care, the current health-care system appears unable to meet this need. Be...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2006.00728.x
更新日期：2007-01-01 00:00:00
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journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1983.tb00091.x
更新日期：1983-11-01 00:00:00
abstract：:One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and sal...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1980.tb01018.x
更新日期：1980-08-01 00:00:00
abstract：:It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：
更新日期：1989-11-01 00:00:00
abstract：:A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1992.tb03220.x
更新日期：1992-09-01 00:00:00
abstract：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
abstract：:Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplas...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12371
更新日期：2015-03-01 00:00:00
abstract：:We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1034/j.1399-0004.1999.550513.x
更新日期：1999-05-01 00:00:00
abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.1993.tb03823.x
更新日期：1993-06-01 00:00:00
abstract：:To evaluate whether the CF carrier status has any lasting effect on anxiety and on self-concept at least 1 year after the disclosure of the test result, an in-depth interview and additional psychological tests were administered in a group of adults who participated in a previous study which suggested a slight stigmati...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1996.tb03779.x
更新日期：1996-05-01 00:00:00
abstract：:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testin...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2006.00551.x
更新日期：2006-01-01 00:00:00
