SIW. Hereditary diseases

1. SIW

Hereditary diseases
Prepared:Maratova M.D
Cheked:Orazalina A.S

2.

Plan
Introduction .
1. Chromosomes and chromosomal disease.
2. Dental manifestations of hereditary diseases and syndromes .
3. Conclusion .
4. References .

3.

Hereditary diseases - diseases , the emergence
and development of which is associated with
defects in the genetic apparatus of cells , handed
down through the gametes . The term is used in
relation polietiologichesky disease , unlike a
smaller group - gene disease. Hereditary diseases
are caused by disturbances in the process of
storage , transfer and implementation of genetic
information .

4.

Introduction .
One of the sections of hereditary diseases
(corresponding to the patients account for nearly 25
% of hospital beds all over the world ) are
chromosomal disease. These include a group of
diseases caused by numerical or structural changes
of chromosomes , or a combination thereof , which is
detected with a special analysis of cell nuclei karyological study.

5.

1. Chromosomes and chromosomal disease.
In higher organisms, the link between generations through germ cells.
Cell - a single whole, and all its structural and biochemical components
are closely interrelated. At the beginning of this century, it was found
that the cell has a highly specialized building blocks that determine the
hereditary succession of the body properties. These elements are the
chromosomes (from the Greek word "lame" - coloring), which include
units of hereditary information - the genes. Thus, each cell is the
custodian of the genetic information.

6.

For each species is characterized by a constant number of
chromosomes . Most higher organisms , each cell contains a diploid ( 2n
) chromosome set . Chromosomes are different shapes and sizes.
The collection of quantitative and qualitative characteristics of the
chromosomes , which is determined at the microscope in a single cell ,
called a karyotype .

7.

Normal diploid number of chromosomes in humans is equal to 46. Due to
the imperfection of cytological techniques the total number of
chromosomes in humans for a long time
(From 1912 to 1956) was considered equal to 48. In 1956, the Swedish
cytologists J. H.
Tijo and A. Levan applying improved cytological technique on the material
culture of fibro-blasts 4 lung tissue of human embryos revealed that the
model number of chromosomes in humans is equal to 46. The data in the
same year were confirmed by British cytologists SE Ford and J. L.
Hamerton (1956). These two posts were the beginning of the rapid
development of human cytogenetics.

8.

Among the many methods for the study of hereditary diseases
cytogenetic technique occupies an important place. It can be used to
analyze the material basis of heredity and human karyotype in health
and disease, to learn some patterns of mutation and evolutionary
processes. All chromosomal disease in humans were discovered by this
method. It is indispensable for the differential diagnosis of many
congenital and hereditary diseases. To capture them in a clinical
laboratory with appropriate equipment and reagents easy.

9.

2. Dental manifestations of hereditary diseases and syndromes .
2.1 Genetic aspects of dental caries , periodontal diseases , rasscheleny
upper lip and palate .
It is known that the resistance to dental caries is influenced by many
genetic factors . AA Zubov and LT Levchenko (1981 ) , IA Balchyunene
(1985 ) noted that a certain degree of resistance depends on the
morphological traits of the teeth ( the existence and structure of
grooves , pits , tooth size, its differentiation ) .

10.

Individuals resistant to caries , more archaic structure of the chewing
surfaces of the first upper molars , and in patients with multiple caries is
relatively more pronounced evolutionarily
"Young" variable structural features of the upper molars . M. Brucker
(1944 ) also emphasized the influence of heredity on the constitution of
the tooth and its susceptibility to caries .

11.

Pakhomov GN et al . (1979 ) studied the question of the relationship of
dental caries and heredity factors hypothesized influence of heredity on
the resistance of teeth to it . Incomplete penetrance and a high
coefficient of inherited ™ give reason to believe that the genetic system
that determine the resistance of teeth to decay , involved more than
one gene . A certain gene (main ) controls the ability of a given trait . It
is recessive to the gene that determine predisposition to karie-

12.

Resistance to dental caries is determined not only morphological traits ,
but also the state of the immune system . AI Rybakov and V. Ivanov
(1980 ) pointed to the genetic predisposition to tooth decay , which can
manifest itself in the period of bookmarks and organ development , and
depends on the body's immune system .

13.

Hereditary gingival fibromatosis form relatively rare dental condition
that can occur in the first year of life and in the tenth year of life. Most
fibrotic proliferation limited to a certain group of teeth , but it is
possible generalized fibromatosis gums ; Dental crowns casting a 2/3 or
completely .

14.

Hereditary forms of fibro hyperplastic changes in the oral mucosa are
usually autosomal dominant inheritance . Rarely are recessive forms
with different penetrance . There are sporadic cases . Symmetric
fibromas of the oral cavity also have autosomal dominant inheritance ,
but there may be recessive form with low penetrance .

15.

Ivanov (1981) refers to the gingival fibromatosis genetically caused
diseases. gingival fibromatosis surgical treatment if the disease process is
in temporary teeth, they are subject to removal.
Currently, there are more than 50 syndromes that as one of the signs
include cleft lip and / or palate: 1% of patients with typical cleft lip, jaw
and palate occurs ear malformation, population frequency of severe
anomalies of the ear is 0.07% ; at
15.4% of patients ascertain the genetic basis of cleft lip and palate; at
19.57% of patients with cleft wore the family character; in 22.9% of
patients with established genetic cause of cleft lip, jaw and palate, degree
of inheritance of a bilateral cleft lip, jaw and palate is higher (30.6

16.

in 3.3% of patients with congenital malformations of the face is usually
detected fenoskopii (threatening miscarriage in the I trimester of pregnancy,
radiation and hormonal effects, severe early toxicity pregnant); at
17% of patients with cleft lip, jaw and palate reveals its family character.
Analysis dermatoglyphics fingerprints and palms showed that they are
anomalous compared to the control with congenital cleft lip and palate.
Dermatoglyphic research R.N.Deshmukh et al (1979), N.
Kanematsu (1982) to determine the etiology of this anomaly showed that
with familial cases of cleft lip and palate prints asymmetrical right and left
hands and teratogenic in the control group and they are symmetrical. The
author believes that this malformation multifaktorialen.

17.

In conclusion, it should be noted that not clear genetic and biochemical
mechanisms that affect the appearance of cleft lip and palate in a human.
Teratological research that is carried out at the moment,
pomogutuglubit knowledge about the etiology of cleft and to develop
preventive measures. In the first 3 months. pregnant women should
avoid taking any medicines, including pets.
According to M.M. Cohen (1976), more than 100 syndromes may be
combined with a variety of facial clefts: of these 30 syndromes are
inherited in an autosomal dominant pattern, 35 for autosomal recessive
manner, 6 linked with the fetus, caused by chromosomal aberrations 22
and 7 are unclear mode of inheritance.

18.

Changes dental system with chromosomal diseases.
Chromosomal disease is a group of diseases caused by numerical and
structural chromosome aberrations, visible in the light microscope.
About
1% of all infants have chromosomal abnormalities, leading to serious
consequences. Approximately 90% of these anomalies accounted for
aneuploidies, half of all cases of autosomal aneuploidies, and half - on the
sex chromosomes aneuploidies. In some types of aneuploidies only part
of the cell lines can be affected, resulting in mosaicism. Other
chromosomal abnormalities are classified as structural and represent a
loss of chromosome regions, restructuring of chromosomal material,
translocation and others. [Stevenson A. Davison BA 1972].

19.

Conclusion.
A dentist can make a contribution to the early diagnosis of many hereditary diseases
and syndromes. Diseases such as intestinal polyposis, type II (Peyttsa- Jeghers
syndrome), intestinal polyposis, Type III
(Gardner's syndrome), histiocytosis X, basal cell nevus syndrome (Gorlin syndrome)
syndrome and van der Wood and CCA as primary hyperparathyroidism (family),
congenital aplasia of the thyroid and others, can find a dentist for the first time and
after consultation with the surgeon , endocrinologist and other specialists make a
correct diagnosis.
For the diagnosis of hereditary diseases of particular importance inspection entity:
the cut eye slits (Mongoloid or antimongoloidny), ptosis, epicanthus, exophthalmos,
cataract, blue sclera, strabismus, eyelash size prenositsa (sunken, broad), protruding
brow ridges, filter anomalies, red border of the upper lip, hypo- and hypertelorism,
nosolobny angle, skin pigmentation of the oral mucosa, as well as the shape and
position of the ear, the shape of the skull, after the closure of the fontanelles, are
important growth, the position of fingers, dermatoglyphics analysis, mental
retardation and other signs.
It is known that the causative agent of hereditary diseases are pathological mutant
genes, which are transmitted through germ cells patient parents. In order to prevent
the emergence of a family of patients with hereditary pathology is very important
medical and genetic counseling, whose main tasks are: to establish an accurate
diagnosis of the disease, the definition of thia his inheritance in the family, the
calculation of the risk of recurrence, the explanation of the meaning of the genetic
health of the forecast to turn.

20.

Literature.
1. Belyakov Yu Dental manifestations of hereditary diseases and sindromov.- M .:
Medicine, 1993
2. Lilin ET, Bogomazov EA Goman- Kadoshnikov PB Genetics for vrachej M.,
Medicine, 1990
3. Kolesov AA NN Kasparov,Vladimir Zilina Children's Dentistry vozrasta- M .:
Medicine, 1991
4. Kozlov SI Semanova E. Demikova NS, Blinnikova OE
Hereditary syndromes and genetic health konsultirovanie.Spravochnik.-L.: Medicine
1989
5. Lazyuk GI Lurie IV, stale ED Hereditary syndromes of multiple malformations
razvitiya.-M.: Medicine 1983
6. Hereditary Diseases: Handbook / Ed. LO Badalyana.Tashkent: Medicine, 1980