scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

2009 ◽  
Vol 41 (5) ◽  
pp. 575-581 ◽  
Author(s):  
I. CHERKAOUI JAOUAD ◽  
S. CHAFAÏ ELALAOUI ◽  
A. SBITI ◽  
F. ELKERH ◽  
L. BELMAHI ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Autosomal Recessive ◽  
Average Rate ◽  
Consanguineous Marriage ◽  
Arab Countries ◽  
Birth Prevalence ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

SummaryConsanguineous marriage is traditionally common throughout Arab countries. This leads to an increased birth prevalence of infants with recessive disorders, congenital malformations, morbidity and mortality. The aim of this study was to evaluate the rate of consanguineous marriage in families with autosomal recessive diseases, and to compare it with the average rate of consanguinity in the Moroccan population. The study was conducted in the Department of Medical Genetics in Rabat on 176 families with autosomal recessive diseases diagnosed and confirmed by clinical, radiological, enzymatic or molecular investigations. The rate of consanguinity was also studied in 852 families who had infants with trisomy 21 confirmed by karyotyping. These families were chosen because: (i) there is no association between trisomy 21 and consanguinity, (ii) these cases are referred from different regions of Morocco and (iii) they concern all social statuses. Among 176 families with autosomal recessive disorders, consanguineous marriages comprised 59.09% of all marriages. The prevalence of consanguinity in Morocco was found to be 15.25% with a mean inbreeding coefficient of 0.0065. The differences in the rates of consanguineous marriages were highly significant when comparing the general population and couples with offspring affected by autosomal recessive conditions. These results place Morocco among the countries in the world with high rates of consanguinity. Autosomal recessive disorders are strongly associated with consanguinity. This study better defines the health risks associated with consanguinity for the development of genetic educational guidelines targeted at the public and the health sector.

Mendelian disorders causing hypertension

2010 ◽  
pp. 3071-3073
Author(s):  
Nilesh J. Samani ◽  
Maciej Tomaszewski
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Molecular Level ◽  
Age Of Onset ◽  
Severe Hypertension ◽  
Strong Family History ◽  
Autosomal Recessive Disorders ◽  
Mendelian Disorders ◽  
Recessive Disorders ◽  
Electrolyte Abnormalities

Several mendelian disorders with hypertension as the predominant manifestation have been characterized at the molecular level. Features that may suggest one of these very rare conditions include a young age of onset, moderate to severe hypertension, strong family history, consanguinity (for the autosomal recessive disorders), and electrolyte abnormalities, particularly of potassium (although this is not invariable)....

scholarly journals A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

2020 ◽  
Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

Migration and Hereditary Disease in the Saguenay Population of Eastern Quebéc

1987 ◽  
Vol 21 (3) ◽  
pp. 592-608 ◽  
Author(s):  
Margaret I. Gradie ◽  
Danielle Gauvreau
Keyword(s):  
Genetic Structure ◽  
Genetic Disease ◽  
Genetic Diseases ◽  
Large Population ◽  
Hereditary Disease ◽  
Genetic Homogeneity ◽  
Preliminary Results ◽  
Consanguineous Marriages ◽  
High Level ◽  
The Relationship

This article examines the relationship between migration and genetic disease in the situation of the Saguenay region of Quέbec. This large population shows an elevated incidence of several genetic diseases. The process of migration, which created the population, is thought to be a major factor in determining the genetic structure of the contemporary population. Preliminary results suggest that although consanguineous marriages are not and never were frequent in the population, socially, kinship was important in determining migration and persistence, leading to a high level of genetic homogeneity today.

CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER

2015 ◽  
Vol 47 (06) ◽  
pp. 718-726 ◽  
Author(s):  
WIDED KELMEMI ◽  
IMENE CHELLY ◽  
MAHER KHARRAT ◽  
HABIBA CHAABOUNI-BOUHAMED
Keyword(s):  
Down Syndrome ◽  
Social Practice ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Autosomal Recessive Disorders ◽  
Mutational Status ◽  
Tunisian Patients ◽  
Traditional Societies ◽  
Genetic Pool ◽  
Recessive Disorders

SummaryConsanguineous unions are a deeply rooted social practice among traditional societies. Despite their presumed social advantages, they can result in several health conditions. The aim of this study was: i) to compare consanguinity levels between Tunisian patients affected with autosomal recessive disorders (ARDs) and those with a chromosomal abnormality; and ii) to gain more insight into the mutational status of patients affected with ARDs. Data were collected from 290 files of patients affected by one of five ARDs confirmed by molecular analysis and 248 files of patients with confirmed Down syndrome. Information on the disease, mutation defining the disease, parents' relatedness and geographical origin was gathered. Consanguinity was found among 58% of the ARD patients and among 22% of Down syndrome patients, and a homozygous status was found in 90% of the patients born to related parents and in 70% of patients born to unrelated parents. Also, children from unrelated parents from the same geographical background were found to be more frequently affected by homozygous mutations than those from unrelated parents from different geographical backgrounds. The present study shows how marriage practices affect patterns of genetic variations and how they can lead to homogenization in the genetic pool.

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