Putting Medical Genetics into Practice

Ferguson-Smith, Malcolm A.

doi:10.1146/annurev-genom-082410-101451

Cited by 4 publications

(4 citation statements)

References 135 publications

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“…My interest in KS is detailed more fully elsewhere (Ferguson‐Smith, 2011) but a brief outline may be appropriate here. I had been a trainee pathologist at Glasgow University and, in 1956–1957 with Bernard Lennox, a high frequency of KS at an infertility clinic was discovered (Ferguson‐Smith et al, 1957).…”

Section: Figurementioning

confidence: 99%

Human cytogenetics at Johns Hopkins Hospital, 1959–1962

Ferguson‐Smith

2021

American J of Med Genetics Pt A

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An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.

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Section: Figurementioning

confidence: 99%

Human cytogenetics at Johns Hopkins Hospital, 1959–1962

Ferguson‐Smith

2021

American J of Med Genetics Pt A

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“…Many of the mutations in the apolipoprotein B gene alter the functional activity of the protein and reduce the binding of LDLr and delay the removel of LDL moleculas and thus the accumulation of Cholesterol in the circulatory system, so far, four mutations have been identified that cause Familial Defective apolipoprotein B (FDB) the LDL-r link in the apoB gene is: R3480W, R3500Q, R3500W and R3531C [15]. The CGG-CAG in amino acid code 3500 led to the replacement of glutamine to arginine (R3500Q) the most common change which causes FDB [16]. the results in a change in function of the apoB gene, which in turn results in an increase in hypercholesterolemia with an increased risk of atherosclerosis [14,15].…”

Section: Specific-primer -Pcrmentioning

confidence: 99%

“…group [16] In their study of 30 Iranian people in Chaharmal in Bakhtiari province south western Iran, who were likely to have (FH) , the disease was clinically diagnosed the aim of their study was to study the properties of the LDLR gene and three common gene mutations of the apoB gene secondary causes of high Cholesterol, such as Diabetes, Hypertension, Smoking habits and family history had Coronary Artery Disease.…”

mentioning

confidence: 99%

Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah

Al-daraji¹,

Al-Assie²,

Hussien³

2019

Tikrit J. Pure Sci.

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Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease. (FH) is commonly caused by mutations in the three genes: The Low-Density Lipoprotein Receptor (LDLR), apolipoprotein B (apoB), Proprotein Convertase Subtilisin ⁄ Kexin type 9 (PCSK9). The current study aimed to identify mutations in people with homozygous genotypes that affect protein binding causing defects and to ensure that these conditions are diagnosed through important molecular tests through the early intervention of the apoptoprotein gene (apoB) for the R3500Q mutagenic of healthy individuals not associated with hypercholesterolemia (FH) in Sulaymaniyah through the conduct of the polymer chain reaction system and Restrication enzyme genotyping. The study included determination of the polymorphism of genes associated with familial hypercholesterolemia (FH). The molecular study included the genetic analysis of (50) samples of the R3500Q mutation of the apoB gene, after adding the ScaI enzyme, showed there three genotype: were four cases found Homozygous to be one bundle (S+ ⁄ S+) (143 bp), a one case compound heterozygous (S- ⁄ S+) model are two bundle ( 143 bp, 90 bp) and a fourty-five cases had mutant Homozygous (S- ⁄ S-) model of the one bundle (90 bp), all the R3500Q mutations were found on the same allele. the study also included the R3500Q mutation of the apoB gene and Its relation to the studied traits, there was a significant increase in the 0.01 for cholesterol, TG and LDL for patients with hypercholesterolemia was mean (235.61 mg ⁄ dl, 321.83 mg ⁄ dl and 330.90 mg ⁄ dl) respectively , compared to healthy pateints with mean (172.15 mg ⁄ dl , 109.88 mg ⁄ dl and 77.1 mg ⁄ dl).

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“…Chromosome painting with whole chromosome-specific DNA probes reveals these domains as distinct chromatin territories equivalent to the number of chromosomes. The observation of six chromatin territories, corresponding to a diploid number of six, that fill the interphase nucleus of the Indian muntjac is a dramatic early example observed in 1994 [ 29 ] and illustrated later [ 30 ]. After DNA replication the chromatin loops are gathered towards their attachment sites and, as prophase advances, the chromomeres reform so that at metaphase the chromatids once more become cylindrical.…”

Section: Introductionmentioning

confidence: 99%

History and evolution of cytogenetics

Ferguson‐Smith

2015

Mol Cytogenet

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The events that have led to the development of cytogenetics as a specialty within the life sciences are described, with special attention to the early history of human cytogenetics. Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function.

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Putting Medical Genetics into Practice

Cited by 4 publications

References 135 publications

Human cytogenetics at Johns Hopkins Hospital, 1959–1962

Human cytogenetics at Johns Hopkins Hospital, 1959–1962

Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah

History and evolution of cytogenetics

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