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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Prevalence and gene frequencies of phenylthiocarbamide (PTC) taste sensitivity, ABO and Rhesus factor (Rh) blood groups, and haemoglobin variants among a Nigerian population
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Prevalence and gene frequencies of phenylthiocarbamide (PTC) taste sensitivity, ABO and Rhesus factor (Rh) blood groups, and haemoglobin variants among a Nigerian population

机译：尼日利亚人群中苯硫脲（PTC）味觉敏感性，ABO和恒河猴（Rh）血型以及血红蛋白变异的流行率和基因频率

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Background Blood groups and phenylthiocarbamide (PTC) are the most studied genetic traits among human populations around the world. In most of these studies, PTC taste sensitivity was described as a bimodal autosomal trait inherited in a simple Mendelian recessive pattern. ABO blood group is the most studied blood groups followed by Rhesus factors (Rh) and haemoglobin variants. Information from the study of these traits is useful to biologists, geneticists, anthropologists and clinicians. No information on the prevalence and gene frequencies of these traits among a population from Nigeria. Aim This study presents information on the prevalence and gene frequencies of PTC taste sensitivity, ABO blood group and Rhesus factor, and Haemoglobin variants from male and female Nigerians examined. Subjects and methods A total of 232 (51.33%) male and 220 (48.67%) female Nigerians participated in this study. Filter paper impregnated with 81.25mg/L of saturated solution of PTC was used to determine PTC tasters, while blood group phenotypes, Rhesus factor and haemoglobin types were determined by classical method. Hardy–Weinberg method was used to determine allelic frequencies and graphpad 5 computer software was used for the data processing. Results The percentage frequency for non tasters of PTC was 29.42% with allele frequency t =0.5424. There were more male (33.62%) non tasters than female (25.0%), but more female (75.0%) tasters than male (66.38%). This observation was statistically significant ( p =0.0444). Our findings support the bimodal inheritance of PTC taste sensitivity among Nigerians. Overall trend of ABO blood group was O>B>A>AB. This same trend was observed for females but differed for males (O>B=A>AB). O blood group was the highest while AB group was the least among studied Nigerians in both genders. The distribution pattern did not differ significantly ( p =0.1406) from those expected under Hardy–Weinberg Law. 93.14% of the studied population was Rh+ (DD and Dd) and there were more Rh+ males than females but more Rh? females than males. The proportions and distributions of Rh factor among studied population did not show statistical significance ( X 2 =0.6047, df=1, P =0.4624). The overall allele frequency of the blood group as computed according to Hardy–Weinberg Law is r =0.8201, q =0.0977 and p =0.0822. Similar trend in allele frequency was observed for both genders. The allele frequency for Rh+ (D) is 0.7381 and Rh? (d)=0.2619. This trend is also similar in both sexes. Among the six haemoglobin variants common to Nigerians CC was not detected in our study. The other five were observed in the order AA (76.55%)>AS (20.35%)>AC (1.99%)>SS (0.66%)>SC (0.44%). The overall allele frequency was A =0.8772, S =0.1106, C =0.0122. Conclusion The findings from this study provide information on the studied traits. It will provide background information for further studies and will be useful to clinicians, geneticists and anthropologists with respect to blood transfusion, marriage counseling and population studies.
机译：背景技术血型和苯硫脲（PTC）是世界各地人口中研究最多的遗传特征。在大多数这些研究中，PTC味觉敏感性被描述为以简单的孟德尔隐性遗传方式继承的双峰常染色体性状。 ABO血型是研究最多的血型，其后是恒河猴因子（Rh）和血红蛋白变体。这些特征研究的信息对生物学家，遗传学家，人类学家和临床医生很有用。没有关于尼日利亚人群中这些性状的流行和基因频率的信息。目的本研究提供了有关男性和女性尼日利亚人的PTC味觉敏感性，ABO血型和恒河猴因子以及血红蛋白变异体的患病率和基因频率的信息。受试者和方法共有232名（51.33％）男性和220名（48.67％）尼日利亚人参加了这项研究。用浸有PTC饱和溶液的81.25mg / L滤纸测定PTC口味，同时用经典方法测定血型，恒河猴因子和血红蛋白类型。使用Hardy-Weinberg方法确定等位基因频率，并使用graphpad 5计算机软件进行数据处理。结果PTC非品味者的百分比频率为29.42％，等位基因频率t = 0.5424。男性（33.62％）的非品尝者比女性（25.0％）多，但女性（75.0％）的品尝者比男性（66.38％）更多。该观察结果具有统计学意义（p = 0.0444）。我们的发现支持尼日利亚人对PTC味觉敏感性的双峰遗传。 ABO血型总体趋势为O> B> A> AB。女性观察到相同的趋势，但男性观察到差异（O> B = A> AB）。在研究的两个性别的尼日利亚人中，O血型最高，而AB组最低。分布模式与哈迪-温伯格定律所预期的没有显着差异（p = 0.1406）。 93.14％的研究人群为Rh +（DD和Dd），其中，Rh +男性多于女性，但Rh +多。女性比男性。 Rh因子在研究人群中的比例和分布没有统计学意义（X 2 = 0.6047，df = 1，P = 0.4624）。根据哈迪-温伯格定律计算的血型总等位基因频率为r = 0.8201，q = 0.0977和p = 0.0822。男女都观察到了相似的等位基因频率趋势。 Rh +（D）的等位基因频率为0.7381，Rh？（D）为？ （d）＝ 0.2619。男女的这一趋势也相似。在我们的研究中未检测到尼日利亚CC共有的六个血红蛋白变异体。以AA（76.55％）> AS（20.35％）> AC（1.99％）> SS（0.66％）> SC（0.44％）的顺序观察其他五种。总等位基因频率为A = 0.8772，S = 0.1106，C = 0.0122。结论本研究的发现为所研究的性状提供了信息。它将为进一步研究提供背景信息，并将在输血，婚姻咨询和人口研究方面对临床医生，遗传学家和人类学家有用。

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