Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.

In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1, nt 110 (0.4%), and beta + IVS-2, nt 745 (0.4%). This information allows prenatal diagnosis by DNA analysis to be made in the great majority of Sardinian couples at risk for beta thalassaemia.     

Familial resemblance in somatotype

Parent-child, sibling, and spouse similarities in Health-Carter somatotype components are considered in 938 individuals from 243 nuclear families of French Canadian ancestry. Familial correlations were considered for each somatotype component, after adjusting for age, gender, and the other somatotype components. Correlations were also calculated with and without adjustment for energy intake (EI) and physical activity level (AL). AL and EI were estimated from 3-day records, including a weekend day. Age and gender accounted for a significant (P < 0.01) proportion of variation in somatotype components of parents and children. The addition of AL and EI to age and gender in the regression analysis increased the variance explained by 11% (children) and 18% (adults) for endomorphy, 6% (children) and 8% (adults) for mesomorphy, and 11% (children) and 20% (adults) for ectomorphy. Spouse correlations for somatotype components were low and not significant. Parent-child and sibling correlations were significant and ranged from 0.18 to 0.48 for endomorphy, 0.23 to 0.59 for mesomorphy, and 0.14 to 0.47 for ectomorphy. Adjusting for AL and EI did not appreciably influence the familial correlations. Parent-offspring and sibling correlations showed familial aggregation for mesomorphy, while correlations for endomorphy and ectomorphy were lower. These results are consistent with a transmission effect across generations and, perhaps heritability, with the level being highest for mesomorphy. © 1993 Wiley-Liss, Inc.     

塔吉克族成人Heath-Carter体型特征

目的 探讨塔吉克族成人的体型特征及变化规律。 方法 应用Ｈeath-Carter体型方法对280（男性124,女性156）例塔吉克族成人进行体型判定。 结果 塔吉克族男性与女性的平均体型值分别为4.3-3.1-1.8和7.0-3.1-1.1,均为偏中胚层的内胚层体型。塔吉克族外因子与年龄成显著负相关,塔吉克族女性内因子、中因子与年龄成显著正相关,塔吉克族男性内因子、中因子与年龄不相关。随年龄增长,女性年龄组间的体型差异较男性更明显。 结论 塔吉克族骨骼肌肉量较少,女性体脂发达,与藏族等高原人群和阿尔泰语系其他人群的体型有差异。     

Analysis of sibling resemblance in anthropometric somatotype components

We analysed the Heath-Carter somatotype familial resemblance degree in a sample of 1350 siblings (685 males and 665 females) from 634 nuclear families in the province of Biscay (Basque Country, Spain). Sibling correlations were estimated according to maximum likelihood procedures for endomorphy, mesomorphy, ectomorphy and somatotypical attitudinal distance (SADi), after having adjusted for age, sex and the two other components (Model I), and after taking into account several environmental variables shared by all members of each sibship (Model II). All sibling correlations of the somatotype components were significant, tending to be higher in the case of mesomorphy than in the case of endomorphy. Same-sex siblings (BB and SS) displayed significant mesomorphic and ectomorphic resemblances, but in the case of endomorphy, sisters (SS) revealed relatively low correlation compared with brothers (BB). The sex of sibs had a significant influence on correlations of mesomorphy, but not on the other two components. Further control of socio-familial variables such as the father's occupation and education, and the sibship size, resulted in lower mesomorphy correlation coefficients, but had no effect whatsoever on the other two components. SADi correlations were very low and not significant, indicating high degrees of dispersion in the individual somatotypes of the sample.     

Analysis of sibling resemblance in anthropometric somatotype components

We analysed the Heath-Carter somatotype familial resemblance degree in a sample of 1350 siblings (685 males and 665 females) from 634 nuclear families in the province of Biscay (Basque Country, Spain). Sibling correlations were estimated according to maximum likelihood procedures for endomorphy, mesomorphy, ectomorphy and somatotypical attitudinal distance (SADi), after having adjusted for age, sex and the two other components (Model I), and after taking into account several environmental variables shared by all members of each sibship (Model II). All sibling correlations of the somatotype components were significant, tending to be higher in the case of mesomorphy than in the case of endomorphy. Same-sex siblings (BB and SS) displayed significant mesomorphic and ectomorphic resemblances, but in the case of endomorphy, sisters (SS) revealed relatively low correlation compared with brothers (BB). The sex of sibs had a significant influence on correlations of mesomorphy, but not on the other two components. Further control of socio-familial variables such as the father's occupation and education, and the sibship size, resulted in lower mesomorphy correlation coefficients, but had no effect whatsoever on the other two components. SADi correlations were very low and not significant, indicating high degrees of dispersion in the individual somatotypes of the sample.     

广西瑶族Heath-Carter法体型*

目的：研究广西瑶族成人的体型特点。方法：应用Heath-Carter 体型法对广西瑶族成人（ 男性275 例,女 性383 例）进行体型研究。结果：瑶族男性与女性的平均体型值分别为3.7-5.3-1.5 和5.9-5.3-0.9,体型类型分别 为偏内胚层的中胚层体型和偏中胚层的内胚层体型。线性相关分析显示,男性、女性内因子均与年龄呈正相关, 外因子与年龄呈负相关;男性中因子与年龄无相关,女性中因子与年龄呈正相关。单因素方差分析显示,男、女 性3 个因子值年龄组间的差异均具有统计学意义。结论：随着年龄增长,瑶族男性30 岁、女性40 岁以后体型出 现了明显的变化,女性年龄组间差异比男性更明显。     

Relationship of body composition to somatotype in college men

This study was designed to determine the relation of somatotype to body composition of college-aged men and to test the assumptions of the Heath and Carter approach to the estimation of second component as lean body mass relative to height. Lean body mass was estimated from whole-body ⁴⁰K spectrometry and from body density. LBM/height accounted for less than one third of the variation in Health and Carter's second component. When lean body mass and height were used together in multiple regression analysis as separate predictors instead of a ratio, 66 per cent of the variation in the second component was accounted for. The muscle circumferences and height, but not skeletal widths, used in the Heath and Carter method were significant predictors in regression analysis, accounting for 84·5 per cent of the variance in LBM. The use of two skinfolds (upper arm and waist) and body weight represents the most accurate approach for predicting LBM with 96·0 per cent of the variance accounted for. While there was a significant relation between the Heath and Carter anthropometric approach to second component as lean body mass relative to height, a more valid approach to the prediction of second component from anthropometry is the use of skinfolds and body weight, rather than body circumferences and widths, to estimate LBM. A new, practical approach to the estimation of second component is proposed using height and estimated LBM in a regression equation derived on the sample investigated.     

达斡尔族青少年学生体型发育现状及其十六年的变化

目的:探讨达斡尔族青少年学生体型发育的现状及其16年的变化。方法:运用Heath-Carter体型法对内蒙古莫力达瓦达斡尔族自治旗6~18岁达斡尔族中小学生1 980人(男970,女1 010)进行体型分析。结果:男生内因子随年龄逐渐增加,10岁达到最大值,随后又呈下降趋势;女生内因子持续增加,且各年龄组女生内因子普遍高于同龄男生。男、女生中因子随年龄增长变化规律不明显,但各年龄段男生普遍高于女生。外因子值男生随年龄增加呈大体增加趋势,女生则先升后降;达斡尔族男、女生体型随年龄分布特征明显,男生主要集中在中胚层体型,女生体型分布以偏中胚层的内胚层体型、内胚层-中胚层均衡型最为多见;与16年前相比,达斡尔族女生内因子值7~10岁均高于1996年,11岁以后均低于1996年,男生内因子值普遍高于1996年。男、女生中因子值普遍高于1996年,外因子值普遍低于1996年。结论:16年来,达斡尔族学生体型发育有较大提高,尤其以体脂肪含量、骨骼发育程度最明显,但身体线性度发育较差。     

内蒙古地区汉族成人体型的分析

目的：了解内蒙古地区汉族成年人体型。方法：运用Heath-Carter体型法对内蒙古汉族的体型进行研究。结果：男性平均体型值为3．6-4．8-2．1，属偏内胚层的中胚层体型；女性平均体型值为5．6-4．3-1．6，属偏中胚层的内胚层体型。30岁以前男性体型以均衡的中胚层体型为主。30岁以后转变为偏内胚层的中胚层体型，且随年龄增长变化不大。女性随年龄增长内中因子值增加，外因子值下降，体型愈来愈偏内胚层体型。结论：各年龄段的男女平均体型均有显著性差异。与国内其他5个少数民族的资料相比。除回族差异显著外，其余均不显著。     

新疆哈萨克族成人Heath-Carter体型调查

目的：了解我国新疆哈萨克族成年人体型的特点。方法：在知情同意原则基础上,按照整群抽样方法抽 取新疆伊犁州、塔城地区哈萨克族成人1 026 例（ 男468 例、女558 例）作为调查对象,测量所有调查对象的身 高和体重等10 项指标,应用 Heath-Carter 体型测量法进行体型的判定。结果：哈萨克族男性平均体型值为3.54- 4.49-1.50,属于偏内胚层的中胚层型,女性平均体型值为6.23-4.55-0.98,属于偏中胚层的内胚层型。聚类分析结 果显示哈萨克族男性与鄂温克族聚为一类,女性同赫哲族、乌孜别克族聚为一类。结论：哈萨克族各年龄组体型 男性主要表现为偏内胚层的中胚层型,女性主要表现为偏中胚层的内胚层型,且与阿尔泰语系民族体型较相似。     

从体型认定摩梭人的民族身份归属

目的 摩梭人民族身份未定,通过研究摩梭人体型来分析其民族归属。 方法 在云南宁蒗县永宁乡共测量了386例（男179例,女207例）摩梭人体质数据,采用Heath-Carter人体测量法研究摩梭人的体型。 结果 摩梭人男性平均体型值为3.2-4.9-2.4,属于偏内胚层的中胚层体型。女性平均体型值为5.0-4.8-1.6,属于内胚层-中胚层均衡体型。男性体型点的分布相对离散,女性体型点的分布相对集中。60岁以前,随年龄增长,女性脂肪、骨骼和肌肉越来越发达,身体线性度变小。体型位置距离比较,摩梭人体型与布依族最接近,与云南汉族和云南蒙古族较接近,与巴尔虎蒙古族距离较远。采用组间连接法对13个族群（8个南方少数民族、2个南方汉族,3个北方蒙古族）体型3个因子均值进行聚类分析,发现摩梭人体型具有南方族群体型特征,但摩梭人体型与多数南方族群略有不同。综合13个族群男性、女性内、中、外因子均值的比较结果,发现摩梭人身体脂肪含量逊于北方蒙古族和汉族,而高于7个南方少数民族,身体粗壮程度强于多数南方民族,但逊于北方蒙古族。 结论 摩梭人总体上具有南方族群的体型特征,但比多数南方族群身体更粗壮、脂肪更发达。不支持摩梭人是蒙古族一支的观点。     

Age-related changes of somatotype and body mass components in girls

The longitudinal and transverse studies of girls aged 7 to 17 years living in Moscow and the town of Yelabuga were performed to monitor the dynamics of their growth processes, parameters of ectomorphism, mesomorphism and endomorphism depending on the type of body build. Anthropometric, anthroposcopic metods and cluster analysis were used to evaluate the type of body build according to V.G. Shtefko and A.G. Ostrovskiy (1928). Quantitative assessment of parameters of endo-, meso- and ectomorphism was performed using Heath-Carter method (1980). It was shown that the age-related variability of the types of body build appeared in association with the developmental heterochronism, which resulted from the uneven growth rate of different body components. The least variable parameters were found in the girls of digestive and asthenoid types of body build, while in girls of muscular and thoracic types these parameters changed more frequently. The critical periods during which the significant changes of somatotype were increased in number, were defined as 9 to 10 years and puberty period--11 to 14 years. Most sensitive time points in the time-course of somatotype establishment in girls are the ages of 12 and 14 years.     

Heritabilities of somatotype components in a population from rural Mozambique

There have been few genetic studies of normal variation in body size and composition conducted in Africa. In particular, the genetic determinants of somatotype remain to be established for an African population. (1) To estimate the heritabilities of aspects of somatotype and (2) to compare the quantitative genetic effects in an African population to those that have been assessed in European and American populations. The sample composed of 329 subjects (173 males and 156 females) aged 7–17 years, belonging to 132 families. The sibships in the sample ranged in size from two to seven individuals. All sampled individuals were residents of the Calanga region, an area located to the north of Maputo in Mozambique. Somatotype was assessed using the Heath‐Carter technique. Herit abilities were estimated using SAGE software. Moderate heritabilities were determined for each trait. Between 30 and 40% of the variation in each somatotype measure was attributable to genetic factors. The heritability of ectomorphy was 31%. Mesomorphy was similarly moderately heritable, with ∼30% of the variationattributable to genetic factors. The heritability of endomorph was higher in the Calanga population (h² = 0.40). Quantitative genetic analyses of somatotype variation among siblings indicate that genetic factors significantly influence endomorphy, mesomorhpy, and ectomorphy. However, environmental factors also have significant effects on the variation in physique present in the population of Calanga. Lack of proper nutrition, housing, medical assistance, and primary health care, together with very demanding and sex‐specific daily chores may contribute to the environmental effects on these traits. Am. J. Hum. Biol., 2008. © 2008 Wiley‐Liss, Inc.     

Relationship between body composition and the components of somatotype

In a sample of 422 adults (200 females and 222 males) aged 18–73 years, the relationship was determined between somatotype estimated by the Health-Carter (Am. J. Phys. Anthropol. 27:57–74, 1967) method and body composition variables determined by using hydrodensitometry (HD) and Bioelectrical Impedance Analysis (BIA). The anthropometric (ANC) dimensions used to estimate somatotype were positively correlated with the endomorphic and mesmorphic components and negatively correlated with the ectomorphic component. For the BIA measurements, resistance (R) was negatively correlated with the mesomorphic component; and reactance (XC) was negatively correlated with the endomorphic component; both measurements were positively correlated with the ectomorphic component. The HD-negative correlations were observed between mass in water and the endomorphic and mesomorphic components, and positive correlations were observed with the ectomorphic component. Body volume and surface area were positively correlated with the endomorphic and mesomorphic components and negatively correlated with the ectomorphic component. Percent fat and fat weight were related to each of the three components of somatotype for males and females. Fat-free weight for males was also related to the mesomorphic and the ectomorphic components.     

Mycobacterium avium subsp. paratuberculosis, genetic susceptibility to Crohn's disease, and Sardinians: the way ahead

The present study was performed to determine what proportion of people in Sardinia with or without Crohn's disease were infected with Mycobacterium avium subspecies paratuberculosis and had a preponderance of allelic variants of Nod 2, an intracellular protein involved in Crohn's disease susceptibility. Genetic analysis of the alleles of the NOD 2/CARD 15 gene (ins C 3020, G 908 R, and R 702 W alleles), linked to susceptibility or genetic predisposition to Crohn's disease in humans, was carried out on specimens from 37 Crohn's disease patients and 34 patients without Crohn's disease. Our results show that more than 70 percent of people in Sardinia with Crohn's disease carry at least one of the susceptibility-associated NOD 2/CARD 15 alleles and were infected with Mycobacterium avium subspecies paratuberculosis.     

海南文昌城市汉族成人Heath-Carter法体型观察

目的 探讨海南城市汉族体型特征。方法 采用Heath-Carter 人体测量体型方法,对海南文昌城市汉族成年人315例（男为150例,女为165例）进行体型评定。结果 1.海南城市汉族平均体型男性为内胚层-中胚层均衡体型（4.9-5.3-2.0）,女性为偏中胚层的内胚层体型（5.5-4.6-1.9）。2.随着年龄的增长,男性内因子值、中因子值显著增长,外因子值下降,尤以30岁前后这种变化最突出。女性体型30~39岁时较20~29岁身体的充实度有所提高,40~49岁以后则更加结实、丰满。3.男女间体型除20~29、30~39岁组存在显著性差异外,40~49岁以后男女体型差异不显著。4.与其他城市族群比较,海南城市汉族男女平均体型点与山东汉族最接近（男性SAD=0.60,女性SAD=0.40）。结论 海南城市汉族体型接近于中国北方族群。     

Control of homozygous β-thalassemia by carrier screening and antenatal diagnosis in Sardinians

This paper reports the present results of an ongoing program aimed at preventing homozygous beta-thalassemia by means of heterozygote screening and antenatal diagnosis in the Sardinian population. Screening based on the knowledge of carrier frequency and types of thalassemia prevalent in this population was designed to discover all heterozygotes except the few silent beta-thalassemia carriers. Most of the couples at risk were informed and accepted testing. Information was conveyed by mass media, midwives and marriage registry offices. Antenatal diagnosis was accepted by the majority of the couples counselled. The results of antenatal testing were very accurate. There was only one misdiagnosis out of 949 pregnancies tested. This risk of fetal loss was 7.5%. The program was highly effective, as shown by the decline of the incidence of the homozygous state from 1:205 live births in 1976 to 1:557 in 1981.     

Oxygen uptake and blood lactate relationship in subjects of vastly different somatotype

Summary The relationship between oxygen uptake and blood lactate was studied in two human, male, non-athletic subjects of similar age and height but of vastly different somatotype. The obese subject, (weight 109 kg; percent of body fat 30) exhibited a lower level of efficiency during work on a motor driven treadmill (12 km/h, grade + 4%) than the lean subject (weight 60 kg; per cent of body fat 14).On leave, until September 1963, from the University of Massachusetts, Amherst, Massachusetts.