Medico-genetic study of the population of Turkmenia. V. A population and demographic description of the Nokhur isolate

The paper deals with demographic, genealogical and genetic characterization of one Turkmenian isolate--"Nochur". The data on its load of hereditary diseases were published previously. The Turkmenian "Nochurly" tribe consists of 19 large and small clanes. 600 nuclear families live in a small mountain valley of the same name. The share of prereproductive age class is 60%, of reproductive class--29%, this value for postreproductive class being 11%. The average number of children per family, when the families have completed their reproductive period, is 6.84. The average duration of generation (the mean parental age to the birth time of a mean newborn) is 37.7 and 31 years for a man and woman, respectively. Immigration into Nochur is practically absent, there is a flow of emigrants to the capital of the Republic, Ashkhabad. A very high level of assortative mating has been noted, the minimal estimation of inbreeding coefficient being 0.033 (the pedigree) and the maximal--0.0529 (isonimy). Diminishing of the number of lethal equivalents between 1940-1965 and 1966-1980 was discovered. This can be explained by a decrease in natural selection pressure. The data on distribution of genetic markers of the ABO, MN, Rh, Hp and Pp systems within this isolated population are presented.     

Genetic structure of the population of Ashkhabad City of the Turkmen SSR]

Some genetical demographic characteristics of population of Ashkhabad city were studied by direct interviewing of women aged over 18 years. The influence of urbanization on the basic genetical-demographic indices was found, the indices being essentially different from those of rural population studied elsewhere. Analysis of intensity and the structure of marriage migrations showed considerable ethnic subdivision in Ashkhabad population and stability of marriage policy in an every ethnic group. The level and structure of inbreeding as well as positive marriage assortativity are of the same order as in the Turkmen rural population.     

Population genetics of the population of the European north of the RSFSR. IV. The level of blood relationship in 5 villages of Pinega District, Archangel Province]

Computer program "RODAN-1" is used for inbreeding coefficient estimation. The population studied consists of two communities of 5 villages. 385 marriages were computed. The coefficient of inbreeding is 0.00145 for pedigree for rural Russian population (the Arkhangelsk region). The inverse dependence between a village size and corresponding data of inbreeding coefficient is suggested. An attempt was undertaken to estimate the genealogical information value for each pedigree and average information value for a village.     

Medical genetic study of the population of Turkmenia. III. Hereditary pathology in Turkmen Nokhurlis

Medical-genetic investigations were carried out in isolated population of Nokhurlis inhabiting some villages of Ashkhabad and Krasnovodsk provinces. A high coefficient of inbreeding, high endogamy, and low coefficients of migration were found for this population. Two hereditary disorders are relatively frequent among the Nokhurlis and lacking in neighboring populations. The frequency of the autosomal dominant gene for congenital cataract is 0.26% and that of the autosomal recessive gene for a peculiar form of obesity is 2.47%. In both cases, the main factor affecting gene accumulation appears to be the result of genetical drift effect. The total load of hereditary diseases of higher in Nokhurlis than in other Turkmen populations. The connection between the population structure of Nokhurlis and the accumulation of hereditary disorders is discussed.     

Medico-genetic study of the population of the Samarkand region. II. Population-genetic description of 4 kishlaks of the Urgut district]

This report is a second one in a series of works devoted to the medico-genetical screening of Uzbekistan populations. The paper comprises the results of the analysis of the populational structure of one of the village councils (soviets) of the Urgut District of the Samarkand Region. The main parameters of the population studied were as follows: total number 1529 persons, the average number of inhabitants of one village--328. The proportion of the inhabitants studied--56%, the average number of persons per family--5.22; the average period between subsequent generations--30-35 years, the gametic index--0.8, the inbreeding coefficient inferred from pedigrees--0.018899--0.00781, Fst = 0.03577, the average genetic distanse according to Edwards--0.0231-0.0671. The distribution of Mendelian markers (ABO, Rh, Hp and Ptc) was studied. The observed ratio between a high degree of inbreeding and a relatively low extent of isolation of populations permits to explain satisfactorily the distribution and frequencies of hereditary pathology in the Urgut District of the Samarkand Region pointed out in the previous report.     

Inbreeding effects on lifetime in David's deer (Elaphurus davidianus,Milne Edwards 1866) population

The current population of David's deer is derived from 18 individuals kept in Woburn Abbey Park (England). The aim of this study is to evaluate the inbreeding rate as well as inbreeding depression in longevity. The recorded data have been extracted from the International Species Information System (ISIS). Complete records of 2042 individuals (born in 1947-2000) from zoological gardens were studied. The following four subsets of data were formed: all individuals, individuals over 31 days of life, sexually mature individuals (above 450 days old) and individuals with identified sex. Two models (including inbreeding coefficient as linear and quadratic covariables, respectively) have been employed. These computations were performed by the use of the DFREML package programs. This study has shown that average levels of inbreeding in the David's deer are relatively low (no exceed 0.028). The highest level of inbreeding was registered for mature individuals. In general, the average inbreeding on length of life was small for the above mentioned the inbreeding level (from 24 days to 77 days). However, on the basis estimated regression coefficients it can be suggested that an increase of inbreeding could lead to a drastic reduction of longevity. Relationships between inbreeding level and longevity are usually better described by quadratic partial regression (except for the oldest individuals). On the other hand, from a statistical point of view, a relatively low inbreeding level of the population studied is not suitable to derive the slope of the dependencies.     

Medico-genetic study of the population of Turkmenistan. I. Hereditary diseases in 5 districts of the Ashkabad region

Medico-genetic characteristics of the Ashkhabad province of Turkemenia are given. 23 nosological forms of hereditary diseases were found. The population load estimated per 1000 of autosomal-recessive (AR) diseases was 0.7, autosomal-dominant (AD) - 0.4, X-linked - 0.5. Inbreeding coefficient for the families with AR pathology was 0.03529, with AD - 0.01172. The study of territorial distribution of hereditary disease detected slightly marked local accumulation of certain forms of hereditary diseases.     

Marital and migration structure and inbreeding in the Adyg population]

Endogamy and gametic indices for both Russian and Adyg populations living in the Adyg autonomous region of Krasnodar district were determined on different levels of territorial units: village, rural, community (a group of villagers) and rural region. Inbreeding coefficient was estimated for Adyg population and its structure analysed: a random component contributes mostly to the inbreeding coefficient (Fst = 0.00991), non-random component of the inbreeding coefficient being Fis = 0.010009, which testifies to negative marital assortativity among Adygs. Local inbreeding "a" and decline in the inbreeding "phi" coefficient at a distance from 0 to 500 km were calculated using the Malecot's formula: the coefficient "a" was found to be 0.00397, which is in good accordance with the Fst.     

A study of contemporary levels and temporal trends in inbreeding in the Tangier Island, Virginia, population using pedigree data and isonymy

In this study we describe inbreeding in a large pedigree from Tangier Island, Virginia, in which we compare two commonly used methods to estimate inbreeding in humans: pedigree and isonymy (identical surnames of spouses). Genealogical data on 3,512 individuals dating back to 1722 were used. Using the pedigree method, we determined an average inbreeding coefficient (F) of 0.00873 for the community as a whole, and 0.018 for inbred individuals. Analysis of temporal trends showed that inbreeding began around 1800 and peaked at 0.0109 in 1824-1849 and 1875-1899. Thereafter, inbreeding steadily declined to 0.00565 in 1975-1997. Analysis of pedigree structure complexity over time showed that close consanguinity contributes to inbreeding in the earlier cohorts, and remote consanguinity accounts for much of the inbreeding in the later cohorts. The number of common ancestors increases over time, as does the number of paths connecting inbred individuals to these common ancestors. Inbreeding estimates based on the isonymy approach yielded a 2.2-fold higher value of F (0.01945) compared to the pedigree method. Total isonymy estimates over 25-year cohorts overestimated inbreeding values from pedigree data between 1. 5-8-fold. We speculate that the overestimation is probably due to the inability of our data to satisfy the method's assumption of monophyletic origin of each surname. In conclusion, inbreeding in the Tangier Island population is consistent with the isolated nature of its population, and temporal trends reflect patterns in emigration and a breakdown in isolation over time.     

Evaluation of genetic variation in the international Brown Swiss population

The international Brown Swiss cattle population pedigree was studied to measure genetic variations and to identify the most influential animals. Twenty-two countries provided pedigree information on 71 497 Brown Swiss bulls used for artificial insemination (AI). The total number of animals with the pedigree is 181 094. The mean inbreeding coefficient for the pedigree population was 0.77%. There was, in most cases, an increase in the mean inbreeding coefficient, with the highest value at 2.89% during the last 5-year period (2000 to 2004). The mean average relatedness for the pedigree population was 1.1%. The effective population size in 2004 was 204. There was notable variation between average generation intervals for the four parental pathways. The longest average generation interval, at 8.73 years, was observed in the sire–son pathway. The average generation interval for the whole population was 6.53 years. Most genetically influential individuals were sires. The highest contributing founder was a sire with a 3.22% contribution, and the highest contributing founder dam made a contribution of 1.75%. The effective number of founders and the effective number of ancestors were 141 and 88, respectively. The study showed that genetic variation within the pedigree population has been decreasing over recent years. Increasing the number of AI bulls with a low individual coefficient of inbreeding could help to maintain a good level of genetic variation in the Brown Swiss population.     

Population and demographic study of the Turkmen Tekke

Genetical and demographic studies of typical rural population of Turkomen teke in Yangi-Kala village of the Ashkhabad region (about 5.000 inhabitants) were performed through the examination of a sample of 3528 persons. The population is characterised by intensive growth (mean number of children per one woman is 6.17), a high level of endogamy (the total coefficient of inbreeding being 0.010912), preserving the traditional marriage system (91.9 and 8.1% of intrageneric and intergeneric marriages, respectively). Migration does not significantly influence endogamy, because it takes place among kin families.     

Pedigree analysis and inbreeding effects over morphological traits in Campolina horse population

Genetic improvement, without control of inbreeding, can go to loss of genetic variability, reducing the potential for genetic gains in the domestic populations. The aim of this study was to analyze the population structure and the inbreeding depression in Campolina horses. Phenotype information from 43 465 individuals was analyzed, data provided by the Campolina Breeders Association. A pedigree file containing 107 951 horses was used to connected the phenotyped individuals. The inbreeding coefficient was performed by use of the diagonal of the relationship matrix and the genealogical parameters were computed using proper softwares. The effective population size was estimated based on the rate of inbreeding and census information, and the stratification of the population was verified by the average relationship coefficient between animals born in different regions of Brazil. The effects of inbreeding on morphological traits were made by the use of inbreeding coefficient as a covariate in the model of random regression. The inbreeding coefficient increased from 1990 on, impacting effective population size and, consequently, shrinking genetic variability. The paternal inbreeding was greater than maternal, which may be attributed to the preference for inbred animals in reproduction. The average genetic relationship coefficient of animals born in different states was lower than individuals born within the same state. The increase in the inbreeding coefficient was negatively associated with all studied traits, showing the importance to avoid genetic losses in the long term. Although results do not indicate a severe narrowing of the population until the present date, the average relationship coefficient shows signs of increase, which could cause a drastic reduction in genetic variability if inbred mating is not successfully controlled in the Campolina horse population.     

Purging of inbreeding depression within the Irish Holstein-Friesian population

The objective of this study was to investigate whether inbreeding depression in milk production or fertility performance has been partially purged due to selection within the Irish Holstein-Friesian population. Classical, ancestral (i.e., the inbreeding of an individual''s ancestors according to two different formulae) and new inbreeding coefficients (i.e., part of the classical inbreeding coefficient that is not accounted for by ancestral inbreeding) were computed for all animals. The effect of each coefficient on 305-day milk, fat and protein yield as well as calving interval, age at first calving and survival to second lactation was investigated. Ancestral inbreeding accounting for all common ancestors in the pedigree had a positive effect on 305-day milk and protein yield, increasing yields by 4.85 kg and 0.12 kg, respectively. However, ancestral inbreeding accounting only for those common ancestors, which contribute to the classical inbreeding coefficient had a negative effect on all milk production traits decreasing 305-day milk, fat and protein yields by -8.85 kg, -0.53 kg and -0.33 kg, respectively. Classical, ancestral and new inbreeding generally had a detrimental effect on fertility and survival traits. From this study, it appears that Irish Holstein-Friesians have purged some of their genetic load for milk production through many years of selection based on production alone, while fertility, which has been less intensely selected for in the population demonstrates no evidence of purging.     

Genetic demographic description of the Ust-Aldan rural population of Sakha Republic (Yakutia): migrations and marriage structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is FTT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (FIS = 0.002232 and FST = 0.000700).     

Isonymic analysis of population structure in Gredos, Spain

For the period 1875-1975 an isonymic analysis was made based on 41,696 marriages celebrated in three valleys (Tormes, Alberche and Tietar) from Gredos (Spain). Total inbreeding (Ft) was lower in the Tietar valley (0.0103- 0.0136), followed by the Tormes (0.0125-0.0255) and the Alberche (0.0153-0.0200). In the latter, random inbreeding (Fr) surpassed non random (Fn). Correlation coefficients were obtained to confirm an association of inbreeding from isonymy with valley and village endogamy rates, locality census, altitude, and alpha inbreeding. Fn correlated positively with average valley endogamy and village endogamy and with altitude, but inversely with census size. Contrarily, Fr related significantly to village endogamy. The non-random component from isonymy related positively to inbreeding from dispensations. Except for village endogamy, both variables show the same relationships to variables, such as altitude, which reflect limitations to mobility; or valley endogamy indicating the disposability of potential mates which in turn depends on the census size.     

The population structure and inbreeding coefficient in the Yerkes Chimpanzee Colony

This paper describes the establishment and expansion of the Yerkes Chimpanzee Colony over its first half-century of existence. Particular attention is given to the patterns of matings in the population and resultant distribution and levels of inbreeding. Over the period encompassed by this investigation the population mean inbreeding coefficient is 0.0045; the mean inbreeding coefficient for all inbred sibships (20 out of 264) is 0.0990. The mean inbreeding coefficient for all chimpanzees born in the colony is 0.0079, and the highest inbreeding coefficient for any individual is 0.125.     

Medico-genetic study of the population of the Kostroma region. III. Inbreeding coefficient and its dynamics in rural populations and small towns

Analysis of the inbreeding coefficient, its structure and dynamics in rural and urbanized populations of the Kostroma province was performed. The coefficient of inbreeding was estimated for the "old" and "new" villages via migration and isonymy, the values being 0.001185; 0.000786 and 0.001341; 0.000682, respectively. It follows from these data that there is a good agreement between the values of the inbreeding coefficient estimated by two different methods and that this coefficient is diminished doubly in "new" villages. The coefficient of inbreeding in small towns was estimated via isonymy. It is 0.000704 in ancient and 0,000229 in modern towns. The decrease in the inbreeding coefficient was more pronounced in towns, as compared to villages.     

内蒙古赛罕乌拉自然保护区东北马鹿种群遗传多样性与性别结构分析

东北马鹿(Cervuscanadensis)种群面临着地理隔绝和生境破碎化等问题,对其种群遗传多样性和性别结构的研究,有助于了解其隔离种群的生存现状,为保护与管理工作提供科学依据.本研究利用8对微卫星分子标记,对内蒙古赛罕乌拉国家级自然保护区的456份马鹿粪便样品进行遗传多样性分析.结果识别出2015年冬季56只个体,...     

Inbreeding avoidance in an isolated indigenous Zapotec community in the valley of Oaxaca, southern Mexico

We analyzed inbreeding using surname isonymy in an indigenous genetic isolate. The subjects were residents of a rural Zapotec-speaking community in the valley of Oaxaca, southern Mexico. The community can be classified as a genetic isolate with an average gene flow of < or = 3% per generation. Surnames were collected for individuals in each household in pedigree form using the culturally traditional patronym-matronym naming. Estimation of inbreeding from surname isonymy is facilitated by the traditional patronym-matronym name assignment among indigenous Mexican populations. A total of 2,149 individuals had valid surname patronym-matronym pairings, including 484 deceased ancestors. Surname isonymy analysis methods were used to estimate total inbreeding and to segregate it into random and nonrandom components. The surname isonymy coefficient computed from 119 isonymous surname pairings (119/2,149) was 0.0554. The estimated inbreeding coefficient from surname isonymy was 0.0138 (0.0554/4). The random and nonrandom components of inbreeding were F(r) = 0.0221 and F(n) = -0.0091, respectively. The results suggest that consanguinity is culturally avoided. Nonrandom inbreeding decreased total inbreeding by about 41%. Total estimated inbreeding by surname isonymy was 0.0138, which is similar to inbreeding estimated from a sample of pedigrees, 0.01. Socially prescribed inbreeding avoidance substantially lowered total F through negative nonrandom inbreeding. Even in the situation of genetic isolation and small effective population size (N(e)), estimated inbreeding is lower than may have otherwise occurred if inbreeding were only random. However, among the poorest individuals, socially prescribed jural rules for inbreeding avoidance failed to operate. Thus the preponderance of inbreeding appears to occur among the poor, economically disadvantaged in the community.     

Burden of monogenic hereditary pathologies of the residents of Ashkhabad in the Turkmen SSR]

The results of medico-genetic investigation of population of Ashkhabad city are presented involving 229 thousand individuals (118230 Turkomans, 94050 Russians and 16720 subjects of other nationalities). Aggravation values the ethnic groups studied are as follows: Turkomen--AD (autosome-dominant = 0.86 per 1000 subjects, AR (autosome-recessive) = 2.31 per 1000 subjects, attached X chromosomes = 0.52 per 1000 males; Russians--AD = 0.93 per 1000 subjects, AR = 0.84, attached X chromosomes = 0.17 per 1000 males; other nationalities AD = 0.81, AR = 1.43, attached X chromosomes = 0.27. Aggravation of the urban Turkomen population is more valid than that of rural people. Relationship between non-accidental inbreeding rate and aggravation with autosome-recessive pathology is shown for several ethnic subdivisions of the population studied.