By Christian P. Schaaf, Johannes Zschocke, Lorraine Potocki

Welcome to the fascinating international of human genetics! over the last numerous a long time there were large discoveries in clinical genetics and molecular biology, that have essentially replaced our clinical perform. affliction classifications are constantly being revised in accordance with new genetic facts, therapy is separately adapted to molecular details, and genetic counseling is helping sufferers to accommodate future health demanding situations. it's not an exaggeration to claim that each training physician—irrespective of his or her specialty—will desire a robust starting place within the technological know-how that's on the middle of molecular drugs. Human Genetics: From Molecules to drugs is a perfect textual content for somebody learning drugs within the twenty first century because it comprises the basic evidence in addition to medical situations that illustrate the appliance of molecular biology to the prognosis and remedy of human disease.
The ebook has constructed from Basiswissen Humangenetik, the most well known human genetics textbooks in Germany. it's been praised for how it distills advanced ideas, and scholars enjoy its brevity and applicability within the medical surroundings. as well as those good points, Human Genetics additionally addresses a few of the social and private features of individu- als who're clinically determined with inherited problems, as we comprise many pictures and narrative debts that reveal members dwelling with those stipulations. Rick Guidotti’s unprecedented images from the confident publicity initiative improve the textual content whereas portraying the wonderful thing about the variety inherent in our human race.
All of the authors are practising physicians. We designed Human Genetics to be as clini- cally worthwhile as attainable whereas offering the coed with the required starting place within the most vital genetic rules. elements I and II of the booklet comprise all medical professional relatively must find out about molecular and medical genetics, whereas components III and IV specialize in the presentation and administration of people with genetic problems, utilizing a scientific method. half V offers helpful perception into the lives of these residing with genetic disorders.
We expand our appreciation and because of our sufferers and their households who've supplied photos for this variation and who've shared their tales. Heartfelt gratitude is going to our personal households, who proceed to patiently aid us as we recommend our efforts regarding this book.

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Additional info for Human Genetics: From Molecules to Medicine (1st Edition)

Example text

If the extra chromosome complement is of maternal origin, the condition is called digynic triploidy. It results from the fertilization of a diploid ovum by a haploid sperm. The placenta is small and fibrotic, while the fetus shows significant growth retardation and a relatively large head ( Fig. 1). In up to 70% of cases, the additional chromosome complement derives from the father (diandric triploidy). The fertilization of a haploid ovum by two sperm (double fertilization) is by far the most common pathological mechanism.

The outside of the DNA double strand is wound around eight core histones (two each of H2A, H2B, H3, and H4) in a defined spatial arrangement. 75 full twists, which correspond to 146 base pairs or a packaging ratio (the degree of compaction of the double helix) of 1:6. Neighboring nucleosomes are connected by 60 bp of spacer DNA, aided by histone H1, which has a key role in the coiling and packaging of chromatin and also helps to seal the DNA strand at the surface of the nucleosome. Under the electron microscope the individual nucleosomes with their respective linkage regions look like pearls on a chain.

Chromatin: The combination of DNA and (histone and nonhistone) proteins that makes up a chromosome. Euchromatin: Relatively loosely packed chromatin that represents transcriptionally active DNA or may be recognized as light bands during chromosome analysis (G-banding). Heterochromatin: Highly condensed chromatin that represents transcriptionally inactive (often repetitive) DNA or may be recognized as dark bands during chromosome analysis (G-banding). The basic packaging unit of a chromosome in all eukaryotes is the nucleosome.

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