Kalıtım Derecesinin Tahmini ve İnsan Hastalıkları İle Bazı Özelliklerinin Kalıtsallığı

Year 2020, Volume: 10 Issue: 2, 252 - 257, 31.05.2020

İsmet Doğan , Nurhan Dogan

https://doi.org/10.33631/duzcesbed.679732

Abstract

Popülasyon genetiği, popülasyonlardaki genlerin
davranışları hakkında kantitatif tahminler yapmak için büyük ölçüde
matematiksel modellemeye dayanmaktadır. Bu modeller Mendel’in klasik gen
kalıtım ilkelerine, bir popülasyondaki gen frekansını öngören Hardy-Weinberg
denge yasasına ve Darwin'in doğal seleksiyon teorisine dayanmaktadır. Son
yıllarda, insana ait özellik ve hastalıkların kalıtım derecelerinin (ℎ2) tahmini
ile ilgili genom çapında veriler kullanılarak yapılan çalışmalar oldukça
yaygındır. İkizlerin kullanıldığı çalışmalardan elde edilen sonuçların büyük
bir bölümü, insana ait karmaşık özelliklerin tümünün kalıtsal olduğunu
göstermiştir. Kalıtım derecesi, ya toplam genetik varyasyonun (geniş anlamda
kalıtım derecesi) ya da eklemeli genetik varyasyonun (dar anlamda kalıtım
derecesi) katkısı olarak ölçülür. Özelliklerin ve hastalıkların kalıtım
derecesini tahmin etmek için çeşitli yöntemler önerilmiştir. Bir özelliğin
kalıtım derecesi, bireyler arasındaki genetik çeşitlilikten kaynaklanan
fenotipik varyasyon oranını ifade eder. Karmaşık özelliklerin genetik temeli
hakkında önemli bilgiler sağlar ve bir fenotipin daha spesifik istatistiksel ve
moleküler genetik analizler için uygun bir hedef olup olmadığını gösterir.
Bununla birlikte, kalıtım derecesi bir fenotipin sabit bir özelliği değildir ve
genetik arka plan ile çevresel varyasyondaki popülasyona özgü farklılıklara
göre değişebilir. Bu çalışmanın amacı, kalıtım derecesini tahmin etmek için
yaygın olarak kullanılan üç farklı yöntemi tanıtmaktır.

Keywords

Popülasyon, genetik, kalıtım, insan, hastalık

Supporting Institution

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Project Number

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Thanks

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Estimation of Heritability and Inheritance of Some Human Traits and Diseases

Abstract

Population genetics relies heavily on
mathematical modeling to make quantitative predictions about the behavior of
genes in populations. These models are based on Mendel's classical gene
inheritance principles, the Hardy-Weinberg balance law that predicts gene frequency
in a population, and Darwin's theory of natural selection. In recent years,
studies using genome-wide data on the prediction of human traits and disease
inheritance (ℎ2) are quite
common. The majority of results from studies using twins have shown that all of
the human complex features are inherited. Heredity grade is measured as either
the contribution of total genetic variation (broad sense heredity) or additive
genetic variation (narrow sense heredity). Various methods have been proposed
to estimate the heritability of features and diseases. The heritability of a
feature refers to the rate of phenotypic variation resulting from genetic
variation among individuals. It provides important information about the
genetic basis of complex features and indicates whether a phenotype is a
suitable target for more specific statistical and molecular genetic analysis.
However, the degree of heredity is not a constant feature of a phenotype, and
may vary with population-specific differences in genetic background and
environmental variation. The aim of this study is to introduce three different
methods commonly used to estimate the degree of heredity. 

Keywords

Population, genetics, heredity, human, disease

Project Number

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