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The technical advances in molecular biology have endowed us with a
wealth of knowledge, which has allowed us to identify the cause of
diseases not only at a single gene level but at a greater
magnitude, where a substitution or deletion of a single base pair
can be identified. Our present task is to establish a clear link
between phenotype and nucleotide sequence. Obviously, a gene is no
longer an imaginary entity. Recent discoveries in a number of
bewildering traits, whose inheritance do not follow simple
mendelian rules, have caused much amazement. For example, fragile
X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy
arise from "triples repeat mutation" and amplification in future
generations. Genetic diseases which are inherited, can now be
diagnosed prenatally; an idea that was once inconceivable.
The aim of the second volume, entitled Morbid Anatomy of the
Genome, is to reflect on the importance of molecular genetics in
modern medicine. The field has expanded so as to warrant a volume
dedicated exclusively toward understanding those who wish to know
the cause, detection and in turn treatment of such diseases. In
this volume, I have commissioned several scientists to contribute
12 chapters. A chapter describing a special role of molecular
genetics in combating genetic diseases through gene therapy has
also been included, while chapter 13 is a commentary.
A complete account of all diseases whose genetic basis is well
established would be a herculean task and is not within the scope
of a single volume format. Therefore a few specific topics have
been chosen which may be of the greatest interest to scientists and
clinicians. The purpose of this issue is to keep abreast of the
latest developments in a select group of genetic diseases.
The Genetical Theory of Natural Selection by R.A. Fisher (1930)
dictated that sexual dimorphisms may depend upon a single medelian
factor. This could be true for some species but his suggestion
could not take off the ground as gender in Drosophila is determined
by the number of X chromosomes. Technical advances in molecular
biology have revived the initial thinking of Fisher and dictate
that TDF or SRY genes in humans or Tdy in mice are sex determining
genes. The fortuitous findings of XX males and XY female, which are
generally termed sex reversal phenomenon, are quite bewildering
traits that have caused much amazement concerning the pairing
mechanism(s) of the pseudoautosomal regions of human X and Y
chromosomes at meiosis. These findings have opened new avenues to
explore further the genetic basis of sex determination at the
single gene level.
The aim of the fourth volume, titled Genetics of Sex Determination
is to reflect on the latest advances and future investigative
directions, encompassing 10 chapters. Commissioned several
distinguished scientists, all pre-eminent authorities in each field
to shed their thoughts concisely but epitomise their chapters with
an extended bibliography. Obviously, during the past 60 years, the
metoric advances are voluminous and to cover every account of
genes, chromosomes, and sex in a single volume format would be a
herculean task. Therefore, a few specific topics are chosen, which
may be of great interest to scientists and clinicians. The seasoned
scientists who love to inquire about the role of genes in sex
determination should find the original work of these notable
contributors very enlightening. This volume is intended for
advanced students who want to keep abreast as well as for those who
indulge in the search for genes of sex determination.
Medical students often feel they understand the theory behind the
clinical aspect of medicine but seldom have enough chance to put
what they learn into practice. In addition, clinical examinations
pose a challenge to students who may be technically and
theoretically excellent, but who have poor examination technique.
It is quite common for students to lack understanding of how they
will be marked, how much emphasis to place upon certain actions or
how much detail is expected of them. 'OSCE CASES WITH MARK SCHEMES'
is intended to fill this gap. It provides OSCE mark schemes to
reflect the real OSCE experience, by encouraging self assessment
when practicing the clinical scenarios. The book includes chapters
on communication skills, medical ethics, explanation stations,
paediatrics and obstetrics and gynaecology subjects which are
sometimes neglected elsewhere. All four authors have taken part in
medical student teaching and OSCE examinations. They understand
what will earn marks in the actual exam. All the OSCE scenarios are
from stations previously examined in the UK's top medical schools.
This book prepares the student for what the actual finals exam will
be like. CONTENTS: SECTION ONE, COMMUNICATION STATIONS - Presenting
Complaints - Psychiatry History Taking - Pediatrics History Taking
- Obstetrics History Taking - Gynaecology History Taking - Medical
Ethics - Difficult Communication Scenarios - Pharmacology -
Consenting - Explanation of Management and Results SECTION TWO,
PERFORMANCE STATIONS - Examination Skills - Practical Skills - Data
Interpretation - Closing Remarks
The laws of inheritance were considered quite superficial until
1903, when the chromosome theory of heredity was established by
Sutton and Boveri. The discovery of the double helix and the
genetic code led to our understanding of gene structure and
function. For the past quarter of a century, remarkable progress
has been made in the characterization of the human genome in order
to search for coherent views of genes. The unit of inheritance
termed factor or gene, once upon a time thought to be a trivial an
imaginary entity, is now perceived clearly as the precise unit of
inheritance that has continually deluged us with amazement by its
complex identity and behaviour, sometimes bypassing the university
of Mendel's law.
The aim of the fifth volume, entitled Genes and Genomes, is to
cover the topics ranging from the structure of DNA itself to the
structure of the complete genome, along with everything in between,
encompassing 12 chapters. These chapters relate much of the
information accumulated on the role of DNA in the organization of
genes and genomes per se. Several distinguished scientists, all
pre-eminent authorities in each field to share their expertise.
Obviously, since the historical report on the double helix
configuration in 1953, voluminous reports on the meteoric advances
in genetics have been accumulated, and to cover every account in a
single volume format would be a Herculean task. Therefore, only a
few topics are chosen, which are of great interest to molecular
geneticists. This volume is intended for advanced graduate students
who would wish to keep abreast with the most recent trends in
genome biology.
The underlying idea that cancer is a genetic disease at the
cellular level was postulated over 75 years ago when Boveri
hypothesised that the malignant cell was one that had obtained an
abnormal chromatin content. However, it has been only the last
decade where enormous strides have been made toward understanding
neoplastic development. Explosive growth in the discipline of
cancer genetics is so rapid that any attempt to review this subject
becomes rapidly outdated and continuous revisions are warranted.
Conclusive evidence has been reached associating specific
chromosomal abnormalities to various cancers. We have just begun to
characterise the genes, which are involved in these consistent
chromosomal rearrangements resulting in the elucidation of the
mechanisms of neoplastic transformation at a molecular level. The
identification of over 50 oncogenes has led to a better
understanding of the physiological process. Tumor suppresser genes,
which were discovered through inheritance mechanisms, have further
shed some light towards understanding the loss of heterozygosity
during carcinogenesis. The message emerging with increasing clarity
concerning specific pathways which regulate the fundamental process
of cell division and uncontrolled growth.
The advances in molecular biology have led to a major insight in
establishing precise diagnosis and treatment of many cancers
resulting in prevention of death. The field is expanding so rapidly
that a complete account of all aspects of genetics of cancer could
not be accommodated within the scope of a single volume format.
Nevertheless, a few very specific topics have been chosen, which
readers may find of great interest in hopes that their interest may
be rejuvenated concerning the bewildering nature of this deadly
disease. The contributors to Volume 3 have provided up-to-date
accounts of their fields of expertise. Although the contributors
have kept their chapters brief, they include an extensive
bibliography for those who wish to understand a particular topic in
depth.
For more than a century, cancer has been diagnosed on the enigmatic
basis of morphological features. Establishing a diagnosis based on
DNA, RNA, and proteins, which is done routinely now, was once
inconceivable. Cloning a gene of hematopoietic origin is no longer
a fantasy. The approach has shifted over the past 15 years from
identification of chromosomal abnormalities toward zeroing in on
cancer genes.
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