High amino acid variation in the intracellular domain of the pig prolactin receptor (PRLR) and its relation to ovulation rate and piglet survival traits

Two polymorphisms of the porcine prolactin receptor (PRLR) gene were previously related to litter size by several authors; however, the magnitude and direction of such effects varied depending on the population analyzed. We have sequenced the complete coding region of the porcine PRLR gene and found 6 nonconservative SNP: C1217T (Leu/Pro406), C1283A (Asp/Ala428), G1439A (Lys/Arg480), T1528A (Met/Leu510), G1600A (Gly/Ser534), and G1789A (Gly/Ser597), within exon 10 of the gene, which encodes the entire intracytoplasmic domain of the protein. Eight haplotypes were found and were segregating at different frequencies in 6 porcine breeds. The effects of each individual SNP and haplotype were evaluated in an Iberian x Meishan F2 population using a univariate mixed-inheritance animal model. Significant effects on the number of corpora lutea were found for PRLR haplotypes (P < 0.012), confirming the previously reported associations of PRLR in this process and highlighting the importance of performing analysis of haplotypes rather than of individual SNP. Suggestive effects or tendencies were found for heart rate at birth (P < 0.10), rectal temperature (P < 0.05), and oxygen saturation (P < 0.10) 1 h after birth, and time to first suckle (P < 0.10). We found greater than expected levels of amino acid variability within the intracellular domain of the porcine PRLR, which have been associated with differences in the number of corpus lutea of sows and the preweaning survivability of piglets.     

Viability of Iberian x Meishan F2 newborn pigs. II. Survival analysis up to weaning

Iberian x Meishan F2 piglet's preweaning survivability was analyzed using categorical data regression procedures within the proportional hazards assumption. A frailty sire model was assumed with the litter effect treated as an additional random source of variation. Moreover, the relative birth weight within litter and the litter effect were considered time-dependent covariates that changed their values in the second day of life due to cross fostering carried out to standardize litters. Six variables had a significant effect on survivability: birth weight (P < 0.01), relative birth weight within litter (P < 0.001), rectal temperature 60 min after birth (P < 0.01), type of presentation at birth (P < 0.05), presence of stillbirths (P < 0.001), and presence of mummified fetuses (P < 0.001). Small piglets (<0.98 kg) suffered a high hazard ratio (6.57; P < 0.001), with this variable being clearly lower for the rest of birth weight categories. Piglets that were small in relation to their siblings (relative birth weight within litter) also suffered an increased death risk, with a hazard ratio of 1.81 (P < 0.05), which was similar to animals with posterior presentations at birth (hazard ratio = 1.80; P < 0.05). Piglets with a rectal temperature lower than 35.4 degrees C 60 min after birth showed the highest hazard ratio (7.18; P < 0.01). Furthermore, the presence of mummified fetuses decreased the survivability of the remaining siblings, with a hazard ratio of 2.03 (P < 0.01), as did the presence of stillbirths (hazard ratio = 3.55; P < 0.001). The inclusion of the two random effects allowed us to estimate the mode of the joint posterior density of the sire variance (0.08) and the litter variance (1.98). The estimated heritability of preweaning survival reached a value of 0.03. We conclude that piglet survival involves several systematic influences related to birth weight, thermoregulatory ability, and injuries suffered during gestation and farrowing. The genetic variance was small compared with those generated by the common environment, for which the genetic improvement of piglet survival seems difficult.     

Survival analysis of preweaning piglet survival in a dry-cured ham-producing crossbred line

The aim of this study was to investigate piglet preweaning survival and its relationship with a total merit index (TMI) used for selection of Large White terminal boars for dry-cured ham production. Data on 13,924 crossbred piglets (1,347 litters), originated by 189 Large White boars and 328 Large White-derived crossbred sows, were analyzed under a frailty proportional hazards model, assuming different baseline hazard functions and including sire and nursed litter as random effects. Estimated hazard ratios (HR) indicated that sex, cross-fostering, year-month of birth, parity of the nurse sow, size of the nursed litter, and class of TMI were significant effects for piglet preweaning survival. Female piglets had less risk of dying than males (HR = 0.81), as well as cross-fostered piglets (HR = 0.60). Survival increased when piglets were nursed by sows of third (HR = 0.85), fourth (HR = 0.76), and fifth (HR = 0.79) parity in comparison with first and second parity sows. Piglets of small (HR = 3.90) or very large litters (HR >1.60) had less chance of surviving in comparison with litters of intermediate size. Class of TMI exhibited an unfavorable relationship with survival (HR = 1.20 for the TMI top class). The modal estimates of sire variance under different baseline hazard functions were 0.06, whereas the variance for the nursed litter was close to 0.7. The estimate of the nursed litter effect variance was greater than that of the sire, which shows the importance of the common environment generated by the nurse sow. Relationships between sire rankings obtained from different survival models were high. The heritability estimate in equivalent scale was low and reached a value of 0.03. Nevertheless, the exploitable genetic variation for this trait justifies the inclusion of piglet preweaning survival in the current breeding program for selection of Large White terminal boars for dry-cured ham production.     

A simple novel measure of passive transfer of maternal immunoglobulin is predictive of preweaning mortality in piglets

Two factors that contribute to preweaning mortality in piglets are the initiation of lactation by sows and their ability to nurse their piglets. The objective of this study was to determine if the quantification of the transfer of immunoglobulins (Igs) from sow to piglet could act as a measure of these sow factors in terms of their influence on preweaning mortality. To measure passive transfer, a simple, rapid Ig immunocrit method was developed. For validation, the smallest piglets from 204 gilts were sacrificed on day 1 after birth and blood was collected.Piglet serum Ig concentrations were measured three ways: (1) by protein A sepharose precipitation, SDS–PAGE, and densitometry of the IgG heavy chain; (2) by precipitation of Ig with (NH₄)₂SO₄ followed by spectrophotometric measurement; and (3) by precipitation of Ig with (NH₄)₂SO₄ and measurement of the ratio of precipitate to sample volume using a hematocrit microcapillary (the Ig immunocrit method). Results from the (NH₄)₂SO₄ methods correlated (r = 0.86) with those obtained using SDS–PAGE. Day 1 weights and immunocrit ratios and preweaning survival data were then collected from every piglet from first (n = 90), and second (n = 145) parity sows. Bodyweight and immunocrit ratios accounted for 4.8% and 16.7% (P < 0.01) of the variation in preweaning mortality, respectively. Litter average immunocrit ratios were not correlated with preweaning mortality. In conclusion, the Ig immunocrit method is a simple, rapid measure of passive transfer from sow to piglet, and is useful in assessing the initiation of colostrum and the nursing ability of sows, and the effect of these events on preweaning piglet mortality.     

中国黄牛Y-SNPs遗传多样性与起源研究

为了研究中国黄牛Y染色体SNPs的遗传多样性及父系起源,本研究利用PCR-SSCP与测序方法,选择4个牛Y-SNPs位点DDX3Y-7、UTY-19、ZFY-9和ZFY-10,分析了16个中国地方黄牛品种284头公牛与缅甸黄牛4头公牛Y染色体的遗传多样性.结果表明,在中国16个黄牛品种中,仅发现普通牛Y2和瘤牛Y3单倍型,表明只有Y2和Y3两种父系起源,尚未发现中国黄牛存在普通牛Y1单倍型的分子证据.4头缅甸黄牛均为Y3单倍型.在中国16个黄牛品种中,Y2和Y3单倍型频率分别为57.0％和43.0％,其中Y2单倍型频率在北方黄牛中占优势(98.3％),Y3单倍型频率在南方黄牛中占优势(76.1％),中原黄牛中普通牛Y2的单倍型频率较高,为63.8％0,瘤牛Y3的单倍型频率为36.2％.本研究证明,中国黄牛存在普通牛Y2和瘤牛Y3单倍型两种父系起源,Y2单倍型频率自北向南逐渐减少,Y3单倍型频率自北向南逐渐增加,中原地区为普通牛Y2和瘤牛Y3单倍型的交汇处.     

水貂ASIP基因单倍型检测及其皮肤组织mRNA差异表达分析

试验旨在探究鼠灰色（agouti signaling protein，ASIP）基因单核苷酸多态性（single nucleotide polymorphisms，SNPs）形成的单倍型及皮肤组织差异表达mRNA对水貂被毛色素沉积的影响。通过PCR扩增、Sanger测序技术对金州黑水貂、红眼白水貂和名威银蓝水貂ASIP基因进行SNPs单倍型检测分析，利用实时荧光定量PCR技术检测3种毛色皮肤组织ASIP基因的表达量，分析单倍型及mRNA差异表达与毛色表型的相关性。结果表明，301个样本中共检测到10个SNPs，内含子2中4个SNPs （G18A、A159G、G235T、C1189T）共形成10种单倍型（Hap1~Hap10），其中Hap1（GAGC）和Hap2（GAGT）是3种不同毛色水貂群体的共享单倍型；部分内含子3中6个SNPs （C252T、A290C、G298C、A340G、T343C、T379C）形成4种单倍型（Hap1~Hap4），且Hap2（CCCGCC）是名威银蓝水貂群体的主体单倍型。5个位点（A290C、G298C、A340G、T343C、T379C）均处于完全连锁不平衡状态。实时荧光定量PCR检测显示，金州黑水貂和名威银蓝水貂ASIP基因mRNA表达量分别是红眼白水貂的1.25和0.95倍，三者间差异不显著（P>0.05）。研究结果初步提示，ASIP基因调控水貂不同毛色表型形成的分子机制可能存在差异。     

Relationship of the bovine growth hormone gene to carcass traits in Japanese black cattle.

The bovine growth hormone gene (bGH) possesses three haplotypes, A, B and C, that differ by amino acid mutations at positions 127 and 172 in the fifth exon: (leucine 127, threonine 172), (valine 127, threonine 172) and (valine 127, methionine 172) respectively. The correlation between meat quality or carcass weight and these haplotypes was investigated in Japanese black cattle. Altogether, 940 bGH haplotypes were compared with respect to six carcass traits: carcass weight, longissimus muscle area, rib thickness, subcutaneous fat thickness, beef marbling score and beef colour. The frequency of the B haplotype was higher (0.421) than that of A (0.269) and C (0.311). High carcass weight and low beef marbling were associated with haplotype A (p < 0.05 and p < 0.01 respectively), whereas beef marbling was increased by haplotype C (p < 0.05). Estimated regression coefficient of the A haplotype substitution effect for carcass weight and beef marbling score were 5.55 (13.1% of the phenotypic SD) and -0.31 (17.0%) respectively. That of the C haplotype for beef marbling score was 0.20 (11.0%). The other traits showed no relationship to the haplotypes examined. The results of this investigation suggest that information pertaining to bGH polymorphisms in Japanese black cattle could be used to improve the selection of meat traits.     

Single-nucleotide polymorphism identification in the caprine myostatin gene

Polymerase chain reaction (PCR) products of MSTN gene amplified from 35 goats representing 17 Chinese indigenous goat breeds and five imported goat breeds were sequenced to identify the single‐nucleotide polymorphisms (SNPs) of a 379‐bp fragment including part of intron 2 and exon 3 of MSTN gene. A total of eight SNPs (A1980G, G1981C, A1982G, G1984T, A2121G, T2124C, G2174A and A2246G) were identified among the sequenced goats. The SNPs found are all located in intron 2 except for A2246G, which was a synonymous mutation in exon 3. Four haplotypes were sorted from these eight SNPs, of which, haplotype I (AGAGATGA) and haplotype II (GCGTGTAA) are the two main haplotypes with the frequency of 77.8% and 14.8% respectively. The SNPs found at positions 1980, 1981, 1982, 1984 and 2121 might be linked to inheritance completely.     

The Association Analysis of Prolactin Receptor Gene Polymorphisms with Milk Yield in Yili Horse

This experiment was designed to analyze association of prolactin receptor (PRLR) gene polymorphism with milk yield of Yili horse.The number of 60 horse were selected as samples, detected genetic polymorphism of PRLR gene using PCR-SSCP technique and sequencing technology, and then analyzed the polymorphism with milk yield of Yili horse.The results showed that there were two polymorphism fragments of PRLR gene flanking region, there were three genotypes:AA, AB and BB.Two novel SNPs (g.29764513 G>A and g.30106804 C>A) were identified of PRLR gene flanking region by sequencing.The g.29764513 G>A SNP caused amino acid variations as p.33His>Arg, while the g.30106804 C>A SNP was synonymous mutation without causing amino acid changes.Statistical results indicated that the g.29764513 G>A and g.30106804 C>A SNPs were significantly associated with daily milk yield in Yili horse (P<0.05).These mutations might be as a crucial DNA genetic markersfor milk production traits selection in Yili horse.     

Y chromosome genetic diversity in the Lidia bovine breed: a highly fragmented population

To assess the paternal gene pool in the Lidia bovine breed (or fighting bull), a total of 603 animals belonging to 81 herds classified in 33 lineages were genotyped for six Y chromosome microsatellites, one single nucleotide polymorphism and one indel. A total of 10 haplotypes were determined with a high level of frequency variation between them, ranging from 0.2 to 74%. All the haplotypes identified belong to two previously defined major haplogroups (Y1 and Y2). Two major paternal influences were identified, corresponding to the two most common haplotypes (H1Y1 and H3Y2) with frequencies of 74 and 18%, respectively. The detection of the INRA189-104 allele evidenced an African influence in the Lidia bovine breed. Low levels of haplotype diversity have been achieved and only eight lineages showed more than one haplotype. Analysis of molecular variance showed a high level of interlineage variance (F(ST) = 86%). Network results evidenced two main clusters made for those haplotypes belonging to Y1 and Y2 haplogroups, respectively. The findings support a high level of genetic structure together with a low level of genetic diversity in the Lidia bovine breed.     

猪钙蛋白酶抑制蛋白基因外显子9多态性检测及其对山西白猪背膘厚的影响

本研究采用PCR-SSCP方法检测了杜洛克猪、大白猪、长白猪、山西白猪、山西黑猪和马身猪6个品种共416头个体的钙蛋白酶抑制蛋白(calpastatin,CAST)基因外显子9的多态性,在扩增片段内检测到5个SNPs,分别是第37位的T→G突变、150位的A→G突变、167、193和256位点的C→T突变,其中第193和256位点的C→T突变位于外显子9内,为错义突变,分别引起苏氨酸→异亮氨酸和苏氨酸→蛋氨酸的转变;5个SNPs位点形成A、B、C、D、E、F和G 7种单倍型,其分布与猪的经济类型相一致。在引入猪种大白猪和杜洛克猪群体中,有3种单倍型A、B和C,单倍型B频率较高,分别为0.40和0.53;长白猪群体中只有B和C 2种单倍型,单倍型C频率较高,为0.72;马身猪除含有A、B、C 3种单倍型外,还含有单倍型E,频率为0.16。统计分析结果表明,CAST基因单倍型类型对山西白猪6月龄活体背膘厚无显著影响。     

Novel harmful recessive haplotypes for reproductive traits in pigs

Harmful recessive haplotypes for reproductive and fertility traits have previously been detected in cattle, but so far, no studies have been published for pigs. The aim of this study was to locate chromosomal regions with putative lethal haplotypes and estimate the effects of the identified haplotypes on reproductive traits in the Finnish Yorkshire pig breed. We used marker genotypes of 871 Finnish Yorkshire AI boars, genotyped with Illumina's PorcineSNP60 BeadChip. The analysed traits were number of stillborn piglets in first (NSB1) and later (NSB2) parities, total number of piglets born in first and later parities and piglet mortality between birth and weaning in first and later parities. A haplotype was claimed as a putative lethal if it was common in the population, but no homozygous animals were found. We detected altogether 26 putative lethal haplotypes, but only one haplotype on chromosome 8 (position 107.0–113.3 Mb) was significantly associated with traits NSB1 and NSB2. Three possible candidate genes were found in this chromosomal region: MAD2LI, FGF2 and ANXA5. Further analysis is needed to confirm the role of these genes on pig reproductive performance.     

The effects of dog breed development on genetic diversity and the relative influences of performance and conformation breeding

Genetic diversity was compared among eight dog breeds selected primarily for conformation (Standard Poodle, Italian Greyhound and show English Setter), conformation and performance (Brittany), predominantly performance (German Shorthaired and Wirehaired Pointers) or solely performance (field English Setter and Red Setter). Modern village dogs, which better reflect ancestral genetic diversity, were used as the standard. Four to seven maternal and one to two Y haplotypes were found per breed, with one usually dominant. Diversity of maternal haplotypes was greatest in village dogs, intermediate in performance breeds and lowest in conformation breeds. Maternal haplotype sharing occurred across all breeds, while Y haplotypes were more breed specific. Almost all paternal haplotypes were identified among village dogs, with the exception of the dominant Y haplotype in Brittanys, which has not been identified heretofore. The highest heterozygosity based on 24 autosomal microsatellites was found in village dogs and the lowest in conformation (show) breeds. Principal coordinate analysis indicated that conformation‐type breeds were distinct from breeds heavily used for performance, the latter clustering more closely with village dogs. The Brittany, a well‐established dual show and field breed, was also genetically intermediate between the conformation and performance breeds. The number of DLA‐DRB1 alleles varied from 3 to 10 per breed with extensive sharing. SNPs across the wider DLA region were more frequently homozygous in all pure breeds than in village dogs. Compared with their village dog relatives, all modern breed dogs exhibit reduced genetic diversity. Genetic diversity was even more reduced among breeds under selection for show/conformation.     

Homozygosity of single nucleotide polymorphisms in the 3′ region of the canine estrogen receptor 1 gene is greater in Toy Poodles than in Miniature Dachshunds and Chihuahuas

Differences in the distribution of single nucleotide polymorphisms (SNPs) and haplotypes in the estrogen receptor α gene (ESR1) were examined in Miniature Dachshunds (n = 48), Chihuahuas (n = 20) and Toy Poodles (n = 18). Five DNA fragments located in the 40‐kb region at the 3′ end of ESR1 were amplified by polymerase chain reaction and were directly sequenced. We compared allele, genotype and estimated haplotype frequencies at each SNP in the 3′ end of ESR1 for these three breeds of small dog. The frequency of the major allele and the genotype frequency of the major allele homozygotes, were significantly higher in Toy Poodles for five SNPs (SNP #5, #14–17) than in Miniature Dachshunds, and significantly higher in Toy Poodles than Chihuahuas for three SNPs (SNP #15–17). A common haplotype block was identified in an approximately 20‐kb region encompassing four SNPs (SNPs # 14–17). The frequencies of the most abundant estimated haplotype (GTTG) and GTTG homozygotes were significantly higher in Toy Poodles than in the other two breeds. These results imply that homozygosity for the allele, genotype and haplotype distribution within the block at the 3′ end of ESR1 is greater in Toy Poodles than in Miniature Dachshunds and Chihuahuas.     

Correlated responses for litter traits to six generations of selection for ovulation rate or prenatal survival in French Large White pigs

Effects of selection for reproductive traits were estimated using data from 3 pig lines derived from the same Large White population base. Two lines were selected for 6 generations on high ovulation rate at puberty (OR line) or high prenatal survival corrected for ovulation rate in the first 2 parities (PS line). The third line was an unselected control line. Genetic parameters for age and BW at puberty (AP and WP); number of piglets born alive, weaned, and nurtured (NBA, NW, and NN, respectively); proportions of stillbirth (PSB) and survival from birth to weaning (PSW); litter and average piglet BW at birth (LWB and AWB), at 21 d (LW21 and AW21), and at weaning (LWW and AWW) were estimated using REML methodology. Heritability estimates were 0.38 +/- 0.03, 0.46 +/- 0.03, 0.16 +/- 0.01, 0.08 +/- 0.01, 0.09 +/- 0.01, 0.04 +/- 0.01, 0.04 +/- 0.02, 0.19 +/- 0.02, 0.10 +/- 0.02, 0.10 +/- 0.02, 0.36 +/- 0.02, 0.27 +/- 0.01, and 0.24 +/- 0.01 for AP, WP, NBA, PSB, NW, NN, PSW, LWB, LW21, LWW, AWB, AW21, and AWW, respectively. The measures of litter size showed strong genetic correlations (r(a) >/= 0.95) and had antagonistic relations with PSB (r(a) = -0.59 to -0.75) and average piglet BW (r(a) = -0.19 to -0.46). They also had strong positive genetic correlations with prenatal survival (r(a) = 0.67 to 0.78) and moderate ones with ovulation rate (r(a) = 0.36 to 0.42). Correlations of litter size with PSW were negative at birth but positive at weaning. The OR and PS lines were negatively related to PSW and average piglet BW. Puberty traits had positive genetic correlations with OR and negative ones with PS. Genetic trends were estimated by computing differences between OR or PS and control lines at each generation using least squares and mixed model methodologies. Average genetic trends were computed by regressing line differences on generation number. Significant (P < 0.05) average genetic trends were obtained in OR and PS lines for AP (respectively, 2.1 +/- 0.9 and 3.2 +/- 1.0 d/generation) and WP (respectively, 2.0 +/- 0.5 and 1.8 +/- 0.5 d/generation) and in the PS line for NBA (0.22 +/- 0.10 piglet/generation). Tendencies (P < 0.10) were also observed for LWB (0.21 +/- 0.12 kg/generation) and AWW (-0.25 +/- 0.14 kg/generation) in the PS line. Selection on components of litter size can be used to improve litter size at birth, but result in undesirable trends for preweaning survival.     

SPAG6基因多态性对种公鸡精液品质和性发育相关性状的影响

本研究旨在筛选北京油鸡SPAG6基因的SNPs位点,探讨其与种公鸡精液品质和性发育相关性状之间的关系。选择89只35周龄北京油鸡种公鸡,采用质谱SNP技术进行基因分型,利用Phase软件和Haploview软件进行单倍型分析并构建线性模型,对单个位点、单倍型与精液品质和性发育相关性状进行关联分析。结果表明:SPAG6基因内含子区域共有5个SNPs,其中C29756T和T23041C与精液量、精子活率和精子畸形率显著相关(P0.05);不同单倍型组合与精液量、精子畸形率显著相关(P0.05);H4H4单倍型组合精液量显著高于H2H3和H3H3组合(P0.05),精子畸形率显著低于H2H3和H3H3等组合(P0.05)。综合分析,SPAG6基因是影响鸡精液品质的候选基因;其单个位点SNP突变C29756T、T23041C和H4H4单倍型组合可作为高精液品质鸡群选择的分子标记。     

Polymorphism of GDF9 and BMPR1B genes and their association with litter size in Markhoz goats

The main objective of this study was to investigate the polymorphism of GDF9 and BMPR1B genes and their relationship with litter size in Markhoz goats. The polymorphism of GDF9 and BMPR1B genes as well‐documented genes regarding fecundity in sheep and goat was investigated using RFLP‐PCR and a tetra‐primer amplification refractory mutation system‐PCR (T‐ARMS‐PCR) in Markhoz goats. The 164 blood samples were collected from the raised goats in Sanandaj Markhoz goat Performance Testing Station. The DNA extraction was carried out by salting‐out procedure, and then, PCR was performed using four and two pairs of primers to detect polymorphism in GDF9 and BMPR1B genes, respectively. To disclose GDF9 loci polymorphism, PCR products were digested with SspI (G3288A), PvuII (G423A), MvaI (A959C) and MspI (G1189A) restriction enzymes. The results showed that these mutations are available in tested animals. Parity had no significant effect on litter size. Also, the effects of different genotypes of GDF9 and BMPR1B had no significant effect on litter size. Further studies with a high number of animals with minimum relatedness for testing the association of these SNPs and others in the fecundity genes with reproductive traits may be worthwhile.     

不同类型肉鸡线粒体单倍型与遗传起源研究

旨在探讨鸡线粒体D-loop区单倍型特性以及与生长速度的相关性,并分析其遗传起源。选取不同类型肉鸡品种（配套系）6个,测定其生产性能,并对6个群体共计314个个体线粒体D-loop区全长进行测序,分析其单倍型特性;同时与不同红色原鸡亚种进行聚类,分析其母系起源。结果显示,6个群体D-loop区全序列共检测到37个突变位点,构成40种单倍型,分为A、B、C和E 4个单倍型群,其中AA肉鸡、罗斯308、禽雁麻鸡和裕禾1号肉鸡主要为E单倍型,占比分别为85.92%、50.00%、100.00%和70.21%;园丰麻鸡2号和港丰瑶黑麻鸡E单倍型占比相对较低,分别为15.00%和22.39%,园丰麻鸡2号B单倍型含量最高,占比66.67%,港丰瑶黑麻鸡C单倍型含量最高,占比40.30%。相关性分析显示,初生重与E单倍型比例之间呈极显著正相关（P<0.01）,与A、B和C单倍型比例之间均呈负相关;E单倍型比例与公母平均体重约1.8 kg时日龄之间呈显著负相关（P<0.05）,而与公母平均体重约1.8 kg时饲料转化比之间呈极显著负相关（P<0.01）。聚类分析显示,A、B单倍型所有个体均与原鸡滇南亚种聚为一枝;E单倍型所有个体均与原鸡印度亚种聚为一枝;C单倍型所有个体与原鸡印度亚种、滇南亚种、指名亚种以及印尼亚种交叉聚为一类。结果提示,线粒体单倍型与肉鸡生长速度之间相关显著,E单倍型与肉鸡生长速度具有较强的正相关;我国家鸡群体母系起源丰富,但主要起源于原鸡滇南亚种。     

Haplotype phasing after joint estimation of recombination and linkage disequilibrium in breeding populations

A novel method for haplotype phasing in families after joint estimation of recombination fraction and linkage disequilibrium is developed. Results from Monte Carlo computer simulations show that the newly developed E.M. algorithm is accurate if true recombination fraction is 0 even for single families of relatively small sizes. Estimates of recombination fraction and linkage disequilibrium were 0.00 （SD 0.00） and 0.19 （SD 0.03） for simulated recombination fraction and linkage disequilibrium of 0.00 and 0.20, respectively. A genome fragmentation phasing strategy was developed and used for phasing haplotypes in a sire and 36 progeny using the 50 k Illumina BeadChip by： a） estimation of the recombination fraction and LD in consecutive SNPs using family information, b） linkage analyses between fragments, c） phasing of haplotypes in parents and progeny and in following generations. Homozygous SNPs in progeny allowed determination of paternal fragment inheritance, and deduction of SNP sequence information of haplotypes from dams. The strategy also allowed detection of genotyping errors. A total of 613 recombination events were detected after linkage analysis was carried out between fragments. Hot and cold spots were identified at the individual （sire level）. SNPs for which the sire and calf were heterozygotes became informative （over 90%） after the phasing of haplotypes. Average of regions of identity between half-sibs when comparing its maternal inherited haplotypes （with at least 20 SNP） in common was 0.11 with a maximum of 0.29 and a minimum of 0.05. A Monte-Carlo simulation of BTA1 with the same linkage disequilibrium structure and genetic linkage as the cattle family yielded a 99.98 and 99.94% of correct phases for informative SNPs in sire and calves, respectively.     

伊犁马催乳素受体基因的遗传多态性及其与产奶量的关联分析

试验旨在研究伊犁马催乳素受体(prolactin receptor,PRLR)基因多态性及其与产奶量之间的关联性。以60匹伊犁马为研究对象,选取PRLR基因侧翼区的部分片段,采用PCR-SSCP技术检测其遗传多态性,并与伊犁马的日产奶量进行关联分析,研究PRLR基因的多态性与伊犁马产奶性能的关系。结果显示,PRLR基因侧翼区的2个片段均具有多态性,都存在3种基因型:AA、AB和BB,测序结果显示PRLR-P1的碱基突变位置为g.29764513 G>A,该突变为错义突变,导致其编码的氨基酸由组氨酸变成精氨酸,经关联分析发现,该突变对伊犁马日产奶量有显著影响(P<0.05);PRLR-P2的碱基突变位置为g.30106804 C>A,该突变为同义突变,未导致其编码的氨基酸发生改变,经关联分析发现,该突变对伊犁马日产奶量有显著影响(P<0.05)。伊犁马PRLR基因侧翼区的碱基突变与日产奶量之间存在关联性,且可能是影响伊犁马产奶性能的重要位点。